Knowledge on rare diseases and orphan drugs

86 Result(s)

• Kabuki syndrome
  • Article for general public

    Español (2019.pdf) - Spanish hospitals
    

    Svenska (2019) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    

    Italiano (2015) - 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 (2011.pdf) Management of Kabuki Syndrome - A Clinical Guideline - Dyscerne
    
  • Review article

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

    English (2025) Kabuki Syndrome - GeneReviews
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Kagami-Ogata syndrome
  • Clinical genetics review

    English (2024) Kagami-Ogata Syndrome - GeneReviews
    
• Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
  • Article for general public

    Français (2004.pdf) Disomie uniparentale 14 - Unique
    

    English (2020.pdf) Uniparental Disomy 14 - Unique
    

    ქართული (2020.pdf) Uniparental Disomy 14 - Unique
    
  • Review article

    Español (2015.pdf) - CIBERER
    
• Kallmann syndrome
  • Article for general public

    Svenska (2017) - Socialstyrelsen
    
  • Clinical practice guidelines

    English (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment - Nat Rev Endocrinol
    
  • Review article

    Français (2009.pdf) - Ann Endocrinol
    
  • Clinical genetics review

    English (2008.pdf) - Eur J Hum Genet
    

    English (2022) - GeneReviews
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Kallmann syndrome-heart disease syndrome
  • Review article

    Français (2009.pdf) - Ann Endocrinol
    
• Kaposi sarcoma
  • Article for general public

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

    Deutsch (2021) - AWMF
    

    English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2013) Kaposi's sarcoma: etiology and pathogenesis, inducing factors, causal associations, and treatments: facts and controversies - Clin Dermatol
    
• Kaposiform hemangioendothelioma
  • Article for general public

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

    English (2020) - Orphanet J Rare Dis
    
• Kaposiform lymphangiomatosis
  • Article for general public

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

    English (2017) - PDQ Cancer Inf Sum
    
• Kapur-Toriello syndrome
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    
• Kasabach-Merritt phenomenon
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Anesthesia guidelines

    English (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
  • Article for general public

    English (2017.pdf) KAT6A Syndrome - Unique
    

    ქართული (2017.pdf) KAT6A syndrome - Unique
    

    Русский (2020.pdf) KAT6A syndrome - Unique
    
• Kawasaki disease
  • 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 (2021.pdf) Maladie de Kawasaki - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2022) Maladie de Kawasaki - PNDS
    

    Deutsch (2020) - AWMF
    

    Deutsch (2024) - AWMF
    

    English (2022) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Kawasaki Disease - Arthritis Care Res
    

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

    English (2014) Management of Kawasaki disease - Arch Dis Child
    
  • Diagnostic criteria

    English (2004) Diagnosis, treatment, and long-term management of Kawasaki disease: a statement for health professionals from the Committee on Rheumatic Fever, Endocarditis and Kawasaki Disease, Council on Cardiovascular Disease in the Young, American Heart Association - Circulation
    
• KBG syndrome
  • Article for general public

    English (2019.pdf) ANKRD11 And KBG Syndrome - Unique
    

    Nederlands (2015.pdf) ANKRD11 En KBG Syndroom - Unique
    

    Nederlands (2015.pdf) ANKRD11 En KBG Syndroom - Unique
    

    ქართული (2019.pdf) ANKRD11 En KBG Syndroom - Unique
    

    한국어 (2019.pdf) ANKRD11 And KBG Syndrome - Unique
    

    한국어 (2019.pdf) ANKRD11 And KBG Syndrome - Unique
    

    Русский (2019.pdf) ANKRD11 And KBG Syndrome - Unique
    

    Русский (2019.pdf) ANKRD11 And KBG Syndrome - Unique
    
  • Clinical practice guidelines

    Français (2020) Syndrome KBG - PNDS
    
  • Review article

    English (2017) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
• KCNQ2-related developmental and epileptic encephalopathy
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Kearns-Sayre syndrome
  • Article for general public

    Français (2014.pdf) - Orphanet
    

    Español (2016) - GuíaSalud
    

    Svenska (2016) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2011) - Orphananesthesia
    

    Čeština (2011) - Orphananesthesia
    
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    

    English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
    

    English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
    

    English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
    

    Español (2017.pdf) - Ministerio de Sanidad
    
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    

    English (2023) Mitochondrial DNA Deletion Syndromes - GeneReviews
    

    English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
    
  • Disability factsheet

    Français (2014.pdf) - Orphanet
    

    Español (2017.pdf) - Orphanet
    
  • Guidance for genetic testing

    Français (2016.pdf) - ANPGM
    
• Kennedy disease
  • Article for general public

    Français (2010.pdf) - Orphanet
    

    Español (2015.pdf) - Orphanet
    

    Svenska (2019) - Socialstyrelsen
    
  • Anesthesia guidelines

    Français (2020) - Orphananesthesia
    

    English (2020) - Orphananesthesia
    

    Čeština (2020) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2017) Amyotrophie bulbo-spinale liée à l’X ou maladie de Kennedy - PNDS
    

    English (2020) The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) Spinal and Bulbar Muscular Atrophy - GeneReviews
    
  • Disability factsheet

    Français (2017.pdf) - Orphanet
    
• Keppen-Lubinsky syndrome
  • Clinical practice guidelines

    English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
    
• Keratinopathic ichthyosis
  • Emergency guidelines

    Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Ichthyoses héréditaires - PNDS
    

    English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
    

    English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Keratitis fugax hereditaria
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Keratoderma hereditarium mutilans with ichthyosis
  • Emergency guidelines

    Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Ichthyoses héréditaires - PNDS
    

    English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
    

    English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
  • Emergency guidelines

    Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Ichthyoses héréditaires - PNDS
    

    English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
    

    English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Keutel syndrome
  • Article for general public

    Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
    
• KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
  • Clinical practice guidelines

    English (2025) Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach - Orphanet J Rare Dis
    
• KID syndrome
  • Emergency guidelines

    Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2021) Ichthyoses héréditaires - PNDS
    
  • Clinical genetics review

    English (2013.pdf) - Eur J Hum Genet
    
• Kidney tubulopathy-dilated cardiomyopathy syndrome
  • Clinical genetics review

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    
• Kikuchi-Fujimoto disease
  • Anesthesia guidelines

    English (2016) - Orphananesthesia
    

    Čeština (2016) - Orphananesthesia
    
  • Review article

    English (2006) - Orphanet J Rare Dis
    
• Kindler epidermolysis bullosa
  • Article for general public

    Français (2012.pdf) - Orphanet
    
  • 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 (2022) - GeneReviews
    
  • Disability factsheet

    Français (2013.pdf) - Orphanet
    

    Español (2018.pdf) - Orphanet
    
• King-Denborough syndrome
  • Guidance for genetic testing

    English (2011) - Eur J Hum Genet
    
• Kjellin syndrome
  • Article for general public

    Français (2015.pdf) - Fondation Groupama
    

    Svenska (2020) - Socialstyrelsen
    
  • Clinical genetics review

    English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
    

    English (2021) Spastic Paraplegia 15 - GeneReviews
    
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Kleefstra syndrome
  • Article for general public

    English (2009.pdf) Kleefstra Syndrome - Unique
    

    English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
    

    Русский (2009.pdf) Kleefstra Syndrome - Unique
    
  • Anesthesia guidelines

    English (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Syndrome de Kleefstra - PNDS
    
  • Clinical genetics review

    English (2023) Kleefstra Syndrome - GeneReviews
    
• Kleefstra syndrome due to 9q34 microdeletion
  • Article for general public

    English (2009.pdf) Kleefstra Syndrome - Unique
    

    English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
    

    Español (2009.pdf) Sindrome De Kleefstra Spanish - Unique
    

    Nederlands (2009.pdf) Kleefstra Syndroom - Unique
    

    Русский (2009.pdf) Kleefstra Syndrome - Unique
    

    Русский (2009.pdf) Kleefstra Syndrome And Mental Health - Unique
    
  • Anesthesia guidelines

    English (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Syndrome de Kleefstra - PNDS
    
  • Clinical genetics review

    English (2023) Kleefstra Syndrome - GeneReviews
    
• Kleefstra syndrome due to a point mutation
  • Article for general public

    English (2009.pdf) Kleefstra Syndrome - Unique
    

    English (2016.pdf) Kleefstra Syndrome And Mental Health - Unique
    

    Русский (2009.pdf) Kleefstra Syndrome - Unique
    
  • Anesthesia guidelines

    English (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Syndrome de Kleefstra - PNDS
    
  • Clinical genetics review

    English (2023) Kleefstra Syndrome - GeneReviews
    
• Kleine-Levin syndrome
  • Clinical practice guidelines

    Français (2021) Syndrome Kleine-Levin - PNDS
    
  • Review article

    Français (2008.pdf) - Rev Neurol
    
  • Disability factsheet

    Français (2019.pdf) - Orphanet
    
• Klüver-Bucy syndrome
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Kniest dysplasia
  • Clinical genetics review

    English (2024) Type II Collagen Disorders Overview - GeneReviews
    

    English (2019) - GeneReviews
    
• Kommerell diverticulum
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Koolen-De Vries syndrome
  • Article for general public

    Français (2019.pdf) Syndrome De Koolen-de Vries - Unique
    

    Deutsch (2018.pdf) Koolen-De Vries Syndrome German - Unique
    

    English (2020.pdf) Koolen-De Vries Syndrome - Unique
    

    English (2016.pdf) Koolen-de Vries Syndrome Study Weekend Report - Unique
    

    Nederlands (2013.pdf) Koolen-De Vries Syndroom - Unique
    

    Русский (2013.pdf) Koolen-De-Vries Syndrome - Unique
    
  • Clinical practice guidelines

    Français (2023) Syndrome de Koolen de Vries - PNDS
    
  • Clinical genetics review

    English (2023) Koolen-de Vries Syndrome - GeneReviews
    
• Koolen-De Vries syndrome due to a point mutation
  • Clinical practice guidelines

    Français (2023) Syndrome de Koolen de Vries - PNDS
    
• Kostmann syndrome
  • Article for general public

    Svenska (2019) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2009.pdf) Neutropénie constitutionnelle sévère - Orphanet Urgences
    

    Deutsch (2009.pdf) Schwere konstitutionelle Neutropenie - Orphanet Urgences
    

    Español (2009.pdf) Neutropenia constitucional grave - Orphanet Urgences
    

    Italiano (2012.pdf) Neutropenia costituzionale grave - Orphanet Urgences
    
  • Clinical practice guidelines

    Français (2024) Neutropénies chroniques - PNDS
    
  • Review article

    English (2011) - Orphanet J Rare Dis
    
• Krabbe disease
  • Article for general public

    Deutsch (2015.pdf) - ACHSE
    

    Svenska (2016) - Socialstyrelsen
    
  • Clinical practice guidelines

    English (2011) Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals - Genet Med
    
  • Review article

    English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
    
  • Clinical genetics review

    English (2018) - GeneReviews
    
• Kufor-Rakeb syndrome
  • Article for general public

    Deutsch (2017.pdf) - ACHSE
    
  • Clinical practice guidelines

    Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
    
  • Clinical genetics review

    English (2025) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
    
• Kuskokwim syndrome
  • Clinical practice guidelines

    English (2025) Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach - Orphanet J Rare Dis
    
• Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
  • Disability factsheet

    Français (2018.pdf) - Orphanet
    
• Kyphoscoliotic Ehlers-Danlos syndrome
  • Clinical practice guidelines

    Français (2020) Syndrome d’Ehlers-Danlos Non Vasculaire (SED NV) - PNDS
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    

    English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
    

    English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    
  • Review article

    Français (2023) Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
    
  • Clinical genetics review

    English (2024) PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews
    
• Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Syndrome d’Ehlers-Danlos Non Vasculaire (SED NV) - PNDS
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    

    English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
    

    English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    
  • Review article

    Français (2023) Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
    
  • Clinical genetics review

    English (2019) FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews
    
• Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Syndrome d’Ehlers-Danlos Non Vasculaire (SED NV) - PNDS
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    

    English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
    

    English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
    

    English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
    
  • Review article

    Français (2023) Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
    
  • Clinical genetics review

    English (2024) PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome - GeneReviews
    
  • Guidance for genetic testing

    English (2010) - Eur J Hum Genet
    
• Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
  • Article for general public

    Svenska (2023) Myofibrillära myopatier - Socialstyrelsen