Knowledge on rare diseases and orphan drugs

80 Result(s)

• Ullrich congenital muscular dystrophy
  • Article for general public

    Norsk (2012.pdf) - Cure CMD
    

    Français (2012.pdf) - Cure CMD
    

    Latviešu (2012.pdf) - Cure CMD
    

    Deutsch (2012.pdf) - Cure CMD
    

    English (2012.pdf) - Cure CMD
    

    Español (2012.pdf) - Cure CMD
    

    Türkçe (2012.pdf) - Cure CMD
    

    Svenska (2016) - Socialstyrelsen
    

    Српски (2012.pdf) - Cure CMD
    

    Čeština (2012.pdf) - Cure CMD
    

    Português (2012.pdf) - Cure CMD
    

    日本語 (2012.pdf) - Cure CMD
    
  • Anesthesia guidelines

    English (2015) - Orphananesthesia
    

    Español (2015) - Orphananesthesia
    

    Čeština (2015) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2022) Myopathies reliées au collagène VI - PNDS
    

    English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
    
  • Clinical genetics review

    English (2021) - GeneReviews
    
• Ulnar-mammary syndrome
  • 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
    
• UMOD-related autosomal dominant tubulointerstitial kidney disease
  • Clinical practice guidelines

    English (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report - Kidney Int
    
  • Clinical genetics review

    English (2021) Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD - GeneReviews
    
• Unclassified acute myeloid leukemia
  • Article for general public

    Deutsch (2022) - Onkopedia
    
  • Clinical practice guidelines

    Français (2011) - ALD
    

    English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
    
  • Review article

    Deutsch (2017) - Onkopedia
    
• Unclassified autoinflammatory syndrome
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Unclassified autoinflammatory syndrome of childhood
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Unclassified myelodysplastic syndrome
  • Clinical practice guidelines

    Français (2025) Syndromes myélodysplasiques - ALD
    

    English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
    

    English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
    

    English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
    
  • Review article

    Deutsch (2021) - Onkopedia
    

    English (2021) - Onkopedia
    

    English (2017) GATA2 deficiency and related myeloid neoplasms - Semin Hematol
    
• Unclassified vasculitis
  • Emergency guidelines

    Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
    
• Undifferentiated carcinoma of esophagus
  • Review article

    English (2024) Oesophageal cancer - Lancet
    
  • Clinical genetics review

    English (2023) Carney Complex - GeneReviews
    
• Undifferentiated carcinoma of liver and intrahepatic biliary tract
  • Clinical practice guidelines

    English (2023) Biliary tract cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
    
• Undifferentiated carcinoma of stomach
  • Clinical practice guidelines

    Français (2011) - ALD
    

    Deutsch (2019) - AWMF
    
• Undifferentiated carcinoma of the corpus uteri
  • Article for general public

    Français (2013) - INCa
    
• Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
  • Article for general public

    Français (2012) - INCa
    

    Deutsch (2010) - Onkopedia
    
  • Clinical practice guidelines

    Français (2010) - ALD
    
  • Review article

    Deutsch (2018) - Onkopedia
    

    English (2017) - PDQ Cancer Inf Sum
    
• Undifferentiated pleomorphic 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
    

    English (2018) Bone sarcomas: ESMO-PaedCan-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    

    English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
    
• Unexplained periodic fever syndrome
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Unexplained periodic fever syndrome of childhood
  • Clinical practice guidelines

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Unicentric Castleman disease
  • Review article

    English (2018) Novel insights and therapeutic approaches in idiopathic multicentric Castleman disease - Hematology Am Soc Hematol Educ Program
    
• Unilateral congenital megacalycosis
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Unilateral multicystic dysplastic kidney
  • Clinical practice guidelines

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

    Français (2020) Maladie liée à HNF-1? - PNDS
    

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Unilateral ocular duplication
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    
• Univentricular cardiopathy
  • Article for general public

    Deutsch (2013.pdf) - BVHK
    
  • Clinical practice guidelines

    Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez l’adulte - PNDS
    

    Français (2021) Prise en charge des patients ayant une cardiopathie univentriculaire - PNDS
    

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Univentricular heart
  • Clinical practice guidelines

    Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez l’adulte - PNDS
    

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

    Deutsch (2022) - AWMF
    
• Unspecified juvenile idiopathic arthritis
  • 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 (2019) - AWMF
    

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

    English (2025) Juvenile Idiopathic Arthritis - N Engl J Med
    
• Unspecified mitochondrial disorder
  • Clinical practice guidelines

    Deutsch (2021) - AWMF
    
• Unstable beta globin chain variant disease
  • Article for general public

    Svenska (2018) - Socialstyrelsen
    
  • Clinical practice guidelines

    Deutsch (2023) - AWMF
    

    English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
    

    English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
    

    English (2016) Standards for the clinical care of children and adults with thalassaemia in the UK - UK Thalassaemia Society
    
  • Review article

    Deutsch (2022) - Onkopedia
    

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

    English (2023) Beta-Thalassemia - GeneReviews
    
  • Disability factsheet

    Français (2020.pdf) - Orphanet
    
  • Guidance for genetic testing

    Français (2019.pdf) - ANPGM
    
• Upper limb defect-eye and ear abnormalities syndrome
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS
    
• Urachal cyst
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Urachal diverticulum
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Urachal sinus
  • Clinical practice guidelines

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

    Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
    
• Urban-Rogers-Meyer syndrome
  • Clinical genetics review

    English (2018) Prader-Willi Syndrome - GeneReviews
    
• Urofacial syndrome
  • Clinical genetics review

    English (2023) Urofacial Syndrome - GeneReviews
    
• Usher syndrome
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    Español (2016) - GuíaSalud
    

    Svenska (2021) - Socialstyrelsen
    
  • Clinical practice guidelines

    Español (2017.pdf) - Ministerio de Sanidad
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    

    English (2011) - Eur J Hum Genet
    
• Usher syndrome type 1
  • Article for general public

    Français (2012.pdf) - Orphanet
    

    Español (2016) - GuíaSalud
    

    Svenska (2021) - Socialstyrelsen
    
  • Clinical practice guidelines

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

    English (2020) Usher Syndrome Type I - GeneReviews
    
  • Disability factsheet

    Français (2015.pdf) - Orphanet
    

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

    Français (2015.pdf) - ANPGM
    

    English (2011) - Eur J Hum Genet
    
• Usher syndrome type 2
  • Article for general public

    Español (2016) - GuíaSalud
    

    Svenska (2021) - Socialstyrelsen
    
  • Clinical practice guidelines

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

    English (2023) Usher Syndrome Type II - GeneReviews
    
  • Disability factsheet

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

    Français (2015.pdf) - ANPGM
    

    English (2011) - Eur J Hum Genet
    
• Usher syndrome type 3
  • Article for general public

    Español (2016) - GuíaSalud
    

    Svenska (2021) - Socialstyrelsen
    
  • Clinical practice guidelines

    Español (2017.pdf) - Ministerio de Sanidad
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    

    English (2011) - Eur J Hum Genet
    
• Uterine cervical aplasia and agenesis
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    
• Uterine hypoplasia
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    
• Uveal coloboma-cleft lip and palate-intellectual disability
  • Clinical practice guidelines

    Français (2024) Colobomes oculaires - PNDS