Knowledge on rare diseases and orphan drugs

59 Result(s)

• Jackson-Weiss syndrome
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    
  • Clinical genetics review

    English (2020) - GeneReviews
    
• Jacobsen syndrome
  • Article for general public

    Français (2007) Deletion 11q Terminale (syndrome De Jacobsen) - Unique
    

    Deutsch (2009.pdf) 11q Deletion Disorder Jacobsen Syndrome German - Unique
    

    English (2019.pdf) 11q Deletion Disorder Jacobsen Syndrome - Unique
    

    Español (2005) 11q El Trastorno Por Supresion Terminal Sindrome De Jacobsen Spanish - Unique
    

    Nederlands (2005.pdf) Terminale deletie11q: Jacobsen syndroom - Unique
    

    Svenska (2018) - Socialstyrelsen
    

    Русский (2016.pdf) 11q Deletion Disorder Jacobsen Syndrome - Unique
    
  • Clinical practice guidelines

    Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
    
  • Review article

    English (2009) - Orphanet J Rare Dis
    

    English (2025) Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment - Prog Retin Eye Res
    
  • Guidance for genetic testing

    Français (2017.pdf) - ANPGM
    
• Jalili syndrome
  • Clinical practice guidelines

    Français (2021) Amélogenèses imparfaites - PNDS
    
• Japanese encephalitis
  • Clinical practice guidelines

    Deutsch (2018) - AWMF
    
• Jawad syndrome
  • Clinical practice guidelines

    Deutsch (2019) - AWMF
    
• Jejunal neuroendocrine tumor
  • Clinical practice guidelines

    English (2024) European Neuroendocrine Tumor Society (ENETS) 2024 guidance paper for the management of well-differentiated small intestine neuroendocrine tumours - J Neuroendocrinol
    

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
• Jervell and Lange-Nielsen syndrome
  • Article for general public

    Français (2015.pdf) - Orphanet
    

    Español (2017.pdf) - Orphanet
    

    Svenska (2023) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2015.pdf) Syndrome du QT long - Orphanet Urgences
    

    Español (2008.pdf) Síndrome de QT largo familiar - Orphanet Urgences
    

    Italiano (2015.pdf) Sindrome del QT lungo - Orphanet Urgences
    

    Italiano (2008.pdf) Sindrome familiare del QT lungo - Orphanet Urgences
    

    Português (2008.pdf) Síndrome do QT longo familiar - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Syndrome du QT Long - PNDS
    
  • Review article

    English (2008) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2025) CACNA1C-Related Disorders - GeneReviews
    

    English (2024) Long QT Syndrome Overview - GeneReviews
    

    English (2020) - GeneReviews
    
  • Disability factsheet

    Français (2015.pdf) - Orphanet
    

    Español (2016.pdf) - Orphanet
    
  • Guidance for genetic testing

    Français (2017.pdf) - ANPGM
    

    English (2013) - Eur J Hum Genet
    
• Jeune syndrome
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Johanson-Blizzard syndrome
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Español (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics - Eur J Pediatr Surg
    

    English (2025) European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment - Eur J Pediatr Surg
    

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care - Eur J Pediatr Surg
    

    English (2025) ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers - Eur J Pediatr Surg
    

    English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
    

    English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    

    English (2013) - Eur J Hum Genet
    
• Joubert syndrome and related disorders
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2025) Joubert Syndrome - GeneReviews
    

    English (2007.pdf) - Eur J Hum Genet
    
• Joubert syndrome with hepatic defect
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Français (2024) Colobomes oculaires - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    
  • Review article

    English (2012) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2025) Joubert Syndrome - GeneReviews
    
• Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    
  • Clinical genetics review

    English (2025) Joubert Syndrome - GeneReviews
    
• Joubert syndrome with ocular defect
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2016) - GuíaSalud
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    

    Español (2017.pdf) - Ministerio de Sanidad
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2025) Joubert Syndrome - GeneReviews
    
• Joubert syndrome with oculorenal defect
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2016) - GuíaSalud
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Français (2024) Colobomes oculaires - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    

    Español (2017.pdf) - Ministerio de Sanidad
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2025) Joubert Syndrome - GeneReviews
    
• Joubert syndrome with renal defect
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Français (2021) Syndrome de Joubert - PNDS
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2007.pdf) - Eur J Hum Genet
    

    English (2025) Joubert Syndrome - GeneReviews
    
• Junctional epidermolysis bullosa
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    Svenska (2024) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Junctional epidermolysis bullosa inversa
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    Svenska (2024) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Junctional epidermolysis bullosa with pyloric atresia
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    Svenska (2024) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Épidermolyses bulleuses héréditaires - PNDS
    

    English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
    

    English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
    

    English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
    

    English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
    

    English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
    

    English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
    

    English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
    

    English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
    

    English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
    

    English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
    

    English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
    

    English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
    

    Español (2017.pdf) - Wounds International
    
  • Review article

    English (2010) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2023) Epidermolysis Bullosa with Pyloric Atresia - GeneReviews
    

    English (2018) Junctional Epidermolysis Bullosa - GeneReviews
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• Jung syndrome
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Español (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Juvenile absence epilepsy
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
• Juvenile amyotrophic lateral sclerosis
  • Clinical practice guidelines

    Français (2021) Génétique de la Sclérose Latérale Amyotrophique - PNDS
    

    Français (2015) Sclérose latérale amyotrophique - PNDS
    
  • Clinical genetics review

    English (2021) ALS2-Related Disorders - GeneReviews
    

    English (2023) Amyotrophic Lateral Sclerosis Overview - GeneReviews
    
  • Guidance for genetic testing

    Français (2018.pdf) - ANPGM
    
• Juvenile CLN1 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile CLN10 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile CLN2 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile CLN3 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile CLN5 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile CLN6 disease
  • Review article

    English (2025) Syndromic retinitis pigmentosa - Prog Retin Eye Res
    
• Juvenile dermatomyositis
  • Article for general public

    Norsk (2016) - PRINTO/PRES
    

    Français (2013.pdf) - Orphanet
    

    עברית (2016) - PRINTO/PRES
    

    Polski (2016) - PRINTO/PRES
    

    Latviešu (2016) - PRINTO/PRES
    

    Deutsch (2016) - PRINTO/PRES
    

    Українська (2016) - PRINTO/PRES
    

    Ελληνικά (2016) - PRINTO/PRES
    

    English (2016) - PRINTO/PRES
    

    Español (2016) - PRINTO/PRES
    

    Nederlands (2016) - PRINTO/PRES
    

    Türkçe (2016) - PRINTO/PRES
    

    ไทย (2016) - PRINTO/PRES
    

    বাংলা (2016) - PRINTO/PRES
    

    Svenska (2015) - Socialstyrelsen
    

    Slovenščina (2016) - PRINTO/PRES
    

    Slovenčina (2016) - PRINTO/PRES
    

    Dansk (2016) - PRINTO/PRES
    

    Српски (2016) - PRINTO/PRES
    

    Čeština (2016) - PRINTO/PRES
    

    Русский (2016) - PRINTO/PRES
    

    Hrvatski (2016) - PRINTO/PRES
    

    中文 (2016) - PRINTO/PRES
    

    Română (2016) - PRINTO/PRES
    

    Magyar (2016) - PRINTO/PRES
    

    Italiano (2016) - PRINTO/PRES
    

    العربية (2016) - PRINTO/PRES
    

    Português (2016) - PRINTO/PRES
    
  • Emergency guidelines

    Français (2024.pdf) Dermatomyosite juvénile et dermatomyosite de l'adulte - Orphanet Urgences
    

    Español (2025.pdf) Dermatomiositis juvenil y dermatomiositis del adulto - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2017) Pneumopathies interstitielles diffuses de l’enfant - PNDS
    

    Français (2019) Fragilités osseuses secondaires de l’enfant - PNDS
    

    Français (2016) Dermatomyosite de l’enfant et de l’adulte - PNDS
    

    Deutsch (2022) - AWMF
    

    English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
    

    English (2017) Consensus-based recommendations for the management of juvenile dermatomyositis - Ann Rheum Dis
    

    Español (2020.pdf) - Asoc Española de Pediatría
    
  • Review article

    English (2025) Recent Advances in Juvenile Dermatomyositis: Moving toward Integration of Myositis-Specific Antibody Clinical Phenotypes, IFN-Driven Pathogenesis, and Targeted Therapies - J Invest Dermatol
    

    English (2012) Juvenile dermatomyositis: new insights and new treatment strategies - Ther Adv Musculoskelet Dis
    
  • Disability factsheet

    Français (2015.pdf) - Orphanet
    
• Juvenile glaucoma
  • Article for general public

    Deutsch (2016.pdf) - ACHSE
    
• Juvenile Huntington disease
  • Article for general public

    Français (2006.pdf) - Orphanet
    

    Svenska (2017) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2017.pdf) Maladie de Huntington - Orphanet Urgences
    

    Deutsch (2008.pdf) Huntington-Krankheit - Orphanet Urgences
    

    Español (2017.pdf) Enfermedad de Huntington - Orphanet Urgences
    

    Italiano (2008.pdf) Malattia di Huntington - Orphanet Urgences
    
• Juvenile hyaline fibromatosis
  • Clinical genetics review

    English (2023) Hyalinosis, Inherited Systemic - GeneReviews
    
• Juvenile idiopathic arthritis
  • Article for general public

    Norsk (2016) - PRINTO/PRES
    

    Français (2016) - PRINTO/PRES
    

    עברית (2016) - PRINTO/PRES
    

    Polski (2016) - PRINTO/PRES
    

    Latviešu (2016) - PRINTO/PRES
    

    Deutsch (2016) - PRINTO/PRES
    

    Українська (2016) - PRINTO/PRES
    

    Ελληνικά (2016) - PRINTO/PRES
    

    English (2016) - PRINTO/PRES
    

    Español (2016) - PRINTO/PRES
    

    Nederlands (2016) - PRINTO/PRES
    

    Türkçe (2016) - PRINTO/PRES
    

    ไทย (2016) - PRINTO/PRES
    

    বাংলা (2016) - PRINTO/PRES
    

    Slovenščina (2016) - PRINTO/PRES
    

    Slovenčina (2016) - PRINTO/PRES
    

    Dansk (2016) - PRINTO/PRES
    

    Српски (2016) - PRINTO/PRES
    

    Čeština (2016) - PRINTO/PRES
    

    Русский (2016) - PRINTO/PRES
    

    Hrvatski (2016) - PRINTO/PRES
    

    中文 (2016) - PRINTO/PRES
    

    Română (2016) - PRINTO/PRES
    

    Magyar (2016) - PRINTO/PRES
    

    Italiano (2016) - PRINTO/PRES
    

    العربية (2016) - PRINTO/PRES
    

    Português (2016) - PRINTO/PRES
    
  • Emergency guidelines

    Français (2025.pdf) Arthrite idiopathique juvénile systémique - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2017) Pneumopathies interstitielles diffuses de l’enfant - PNDS
    

    Français (2019) Fragilités osseuses secondaires de l’enfant - PNDS
    

    Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
    

    Français (2017) Arthrites Juvéniles Idiopathiques - PNDS
    

    Deutsch (2021) - AWMF
    

    Deutsch (2021) - AWMF
    

    Deutsch (2019) - AWMF
    

    English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
    

    English (2022) 2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis - Arthritis Rheumatol
    
  • Diagnostic Keys

    Français (2023) Uvéite - Les clés du diagnostic
    

    Français (2022) Arthrite - Les clés du diagnostic
    
  • Review article

    English (2025) Juvenile Idiopathic Arthritis - N Engl J Med
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Juvenile idiopathic inflammatory myopathy
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
• Juvenile myasthenia gravis
  • Article for general public

    Deutsch (2017.pdf) - ACHSE
    
  • Anesthesia guidelines

    Deutsch (2014) - Orphananesthesia
    

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2015) Myasthénie autoimmune - PNDS
    

    Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
    

    Deutsch (2022) - AWMF
    
  • Review article

    English (2007) - Orphanet J Rare Dis
    
• Juvenile myoclonic epilepsy
  • Article for general public

    Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
    
  • Clinical genetics review

    English (2023) KCNQ3-Related Disorders - GeneReviews
    
• Juvenile nasopharyngeal angiofibroma
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Juvenile nephronophthisis
  • Clinical practice guidelines

    Français (2024) Transplantation rénale chez l’enfant - PNDS
    

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    

    Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
    
  • Clinical genetics review

    English (2023) Nephronophthisis-Related Ciliopathies - GeneReviews
    
• Juvenile nephropathic cystinosis
  • Article for general public

    English (2017) - Cystinosis United
    

    Svenska (2017) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2018) Cystinose - PNDS
    

    Deutsch (2024) - AWMF
    

    English (2016) 'Controversies and research agenda in nephropathic cystinosis: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
    

    English (2019) Management of bone disease in cystinosis: Statement from an international conference - J Inherit Metab Dis
    

    English (2014) Nephropathic cystinosis: an international consensus document - Nephrol Dial Transplant
    
  • Review article

    English (2016) Cystinosis: a review - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2025) Cystinosis - GeneReviews
    
  • Diagnostic Keys

    Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
    

    Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
    

    Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
    

    Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
    

    Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
    
• Juvenile or adult CACH syndrome
  • Review article

    English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
    
• Juvenile overlap myositis
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
• Juvenile polymyositis
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2017) Pneumopathies interstitielles diffuses de l’enfant - PNDS
    

    Deutsch (2021) - AWMF
    

    English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
    
• Juvenile polyposis of infancy
  • Clinical practice guidelines

    English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
    
  • Review article

    English (2014) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) Juvenile Polyposis Syndrome - GeneReviews
    
• Juvenile polyposis syndrome
  • Clinical practice guidelines

    English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
    
  • Review article

    English (2014) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) Juvenile Polyposis Syndrome - GeneReviews
    
• Juvenile primary lateral sclerosis
  • Clinical genetics review

    English (2021) ALS2-Related Disorders - GeneReviews
    

    English (2021) ALS2-Related Disorder - GeneReviews
    
• Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • Article for general public

    Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
    

    Polski (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
    

    English (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
    

    Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
    

    Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
    

    Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
    

    Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
    

    Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
    
  • Clinical practice guidelines

    Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
    

    Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
    

    English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
    

    Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
    
• Juvenile-onset Steinert myotonic dystrophy
  • Article for general public

    Français (2006.pdf) - Orphanet
    
  • Clinical practice guidelines

    Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
    

    English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
    
  • Review article

    English (2025) Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment - Prog Retin Eye Res
    
  • Guidance for genetic testing

    Français (2009) - ANPGM
    
• Juxtaposition of the atrial appendages
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS