Knowledge on rare diseases and orphan drugs

80 Result(s)

• VACTERL with hydrocephalus
  • 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
    
• VACTERL/VATER association
  • Article for general public

    Deutsch (2020.pdf) - Soma e.V.
    

    Svenska (2016) - Socialstyrelsen
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à l’âge de 6 ans - PNDS
    

    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
    
  • Review article

    English (2011) - Orphanet J Rare Dis
    
• Vaginal carcinoma
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    
• Valvular pulmonary stenosis
  • Clinical practice guidelines

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

    Deutsch (2018) - AWMF
    
• Van den Ende-Gupta syndrome
  • Anesthesia guidelines

    Deutsch (2011) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2018) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    

    Português (2019) - Orphananesthesia
    
  • 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
    
• Van der Woude syndrome
  • Anesthesia guidelines

    English (2022) Van der Woude syndrome - Orphananesthesia
    

    Español (2022) - Orphananesthesia
    
  • Clinical genetics review

    English (2021) - GeneReviews
    
• Variant ABeta2M amyloidosis
  • Article for general public

    Français (2014) - SNFMI
    
• Variant Creutzfeldt-Jakob disease
  • Clinical practice guidelines

    Deutsch (2024) - AWMF
    
• Variant of Guillain-Barré syndrome
  • Clinical practice guidelines

    Deutsch (2019) - AWMF
    

    English (2023) European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome - Eur J Neurol
    
• Variegate porphyria
  • Article for general public

    Svenska (2023) Akuta hepatiska porfyrier - Socialstyrelsen
    
  • Emergency guidelines

    Français (2022) Crise de porphyrie hépatique aiguë (Porphyrie aiguë intermittente, porphyrie variegata, coproporphyrie héréditaire) - G2M
    

    Français (2016.pdf) Porphyrie hépatique aiguë - Orphanet Urgences
    

    Polski (2007.pdf) Ostre porfirie watrobowe, objawy nerwowo-trzewne - Orphanet Urgences
    

    English (2007.pdf) Acute hepatic porphyria neuro-visceral crisis - Orphanet Urgences
    

    Español (2007.pdf) Porfirias hepáticas agudas - Orphanet Urgences
    

    Italiano (2016.pdf) Porfiria epatica acuta - Orphanet Urgences
    

    Italiano (2007.pdf) Porfirie acute epatiche - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical genetics review

    English (2019) - GeneReviews
    
• Vascular Ehlers-Danlos syndrome
  • Article for general public

    Suomi (2014.pdf) - FPD RD Unit
    

    Svenska (2023) Ehlers-Danlos syndrom, vaskulär form (vEDS) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2017.pdf) Syndrome d’Ehlers-Danlos vasculaire (SEDv - SED de type IV) - Orphanet Urgences
    

    Polski (2009.pdf) Zespol Ehlersa i Danlosa typu IV - Orphanet Urgences
    

    Deutsch (2009.pdf) Ehlers-Danlos-Syndrom Typ IV - Orphanet Urgences
    

    English (2009.pdf) Type IV Ehlers-Danlos Syndrome - Orphanet Urgences
    

    Español (2009.pdf) Síndrome de Ehlers-Danlos de tipo IV - Orphanet Urgences
    

    Italiano (2009.pdf) Sindrome di Ehlers-Danlos tipo IV - Orphanet Urgences
    

    Português (2009.pdf) Síndrome de Ehlers-Danlos do tipo IV - Orphanet Urgences
    
  • Anesthesia guidelines

    Deutsch (2019) - Orphananesthesia
    

    English (2019) - Orphananesthesia
    

    Español (2019) - Orphananesthesia
    

    Čeština (2019) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2018) Treatment of vascular Ehlers-Danlos syndrome: a systematic review - Ann Surg
    

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

    English (2022) Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) - Eur J Med Genet
    

    English (2024) 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases - Eur Heart J
    

    English (2017) Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome - Am J Med Genet C Semin Med Genet
    

    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
    

    English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
    
  • Review article

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

    English (2007) - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2025) Vascular Ehlers-Danlos Syndrome - GeneReviews
    
  • Guidance for genetic testing

    English (2010) - Eur J Hum Genet
    
• Vascular Ehlers-Danlos-polymicrogyria syndrome
  • Review article

    Français (2023) Le syndrome d’Ehlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
    
• Vasculitis
  • Article for general public

    Norsk (2016) - PRINTO/PRES
    

    Français (2014) - SNFMI
    

    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) Vascularites nécrosantes systémiques - Orphanet Urgences
    
• Vegetative pyoderma gangrenosum
  • Clinical practice guidelines

    Deutsch (2020) - AWMF
    

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
• Vein of Galen malformation
  • Anesthesia guidelines

    English (2021) - Orphananesthesia
    
• Vernal keratoconjunctivitis
  • Clinical practice guidelines

    Français (2022) La kératoconjonctivite vernale KCV - PNDS
    
• Verrucous hemangioma
  • Article for general public

    English (2016) - PDQ Cancer Inf Sum
    
  • Clinical practice guidelines

    English (2025) The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Capillary Malformations - J Vasc Anom (Phila)
    
  • Review article

    English (2017) - PDQ Cancer Inf Sum
    
• Very long chain acyl-CoA dehydrogenase deficiency
  • Article for general public

    Svenska (2024) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2023) Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) - G2M
    

    English (2023.pdf) Mitochondrial fatty acid ß-oxidation disorders - G2M
    

    English (2012.pdf) Long chain fat oxidation disorders - Brit Inher Metab Dis Group
    
  • Clinical practice guidelines

    Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
    

    English (2020) Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach - Mol Genet Metab
    
  • Clinical genetics review

    English (2025) Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews
    
• Vestibular schwannoma
  • Review article

    English (2021) Vestibular Schwannomas - N Engl J Med
    
• VEXAS syndrome
  • Clinical practice guidelines

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

    English (2024) Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care - J Clin Immunol
    
  • Clinical genetics review

    English (2025) VEXAS Syndrome - GeneReviews
    
• Vibratory urticaria
  • Clinical practice guidelines

    Deutsch (2022) - AWMF
    
• Vici syndrome
  • Clinical practice guidelines

    Français (2022) Déficits immunitaires héréditaires - PNDS
    

    English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
    
  • Review article

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

    English (2024) Dilated Cardiomyopathy Overview - GeneReviews
    

    English (2022) EPG5-Related Disorder - GeneReviews
    
  • Guidance for genetic testing

    English (2013) - Eur J Hum Genet
    
• VIPoma
  • Clinical practice guidelines

    English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
    
  • Review article

    English (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
    
• Viral hemorrhagic fever
  • Clinical practice guidelines

    Deutsch (2018) - AWMF
    
• Visceral heterotaxy
  • Article for general public

    Svenska (2018) - Socialstyrelsen
    
  • Clinical practice guidelines

    Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
    
• Vitamin B12-responsive methylmalonic acidemia
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
• Vitamin B12-responsive methylmalonic acidemia type cblA
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2021) Disorders of Intracellular Cobalamin Metabolism - GeneReviews
    

    English (2022) - GeneReviews
    
• Vitamin B12-responsive methylmalonic acidemia type cblB
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2021) Disorders of Intracellular Cobalamin Metabolism - GeneReviews
    

    English (2022) - GeneReviews
    
• Vitamin B12-responsive methylmalonic acidemia, type cblDv2
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
• Vitamin B12-unresponsive methylmalonic acidemia
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Vitamin B12-unresponsive methylmalonic acidemia type mut-
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Vitamin B12-unresponsive methylmalonic acidemia type mut0
  • Article for general public

    Français (2011.pdf) - EIMD
    

    Polski (2011.pdf) - EIMD
    

    Deutsch (2011.pdf) - EIMD
    

    English (2011.pdf) - EIMD
    

    Español (2011.pdf) - EIMD
    

    Nederlands (2011.pdf) - EIMD
    

    Türkçe (2011.pdf) - EIMD
    

    Svenska (2021) - Socialstyrelsen
    

    Čeština (2011.pdf) - EIMD
    

    Hrvatski (2011.pdf) - EIMD
    

    Italiano (2011.pdf) - EIMD
    

    Português (2011.pdf) - EIMD
    
  • Emergency guidelines

    English (2012.pdf) Methylmalonic acidemia - Brit Inher Metab Dis Group
    
  • Anesthesia guidelines

    English (2017) - Orphananesthesia
    

    Čeština (2017) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2020) Aciduries organiques : Acidémie Méthylmalonique et Acidémie Propionique - PNDS
    

    English (2024) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2025) Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN - Kidney Int Rep
    

    English (2021) Guidelines for the diagnosis and management ofmethylmalonic acidaemia and propionic acidaemia - J Inherit Metab Dis
    

    English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
    
  • Clinical genetics review

    English (2022) - GeneReviews
    
• Vogt-Koyanagi-Harada disease
  • Review article

    English (2016) Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes - Orphanet J Rare Dis
    
  • Diagnostic Keys

    Français (2023) Uvéite - Les clés du diagnostic
    
• Von Hippel-Lindau disease
  • Article for general public

    Deutsch (2017.pdf) - ACHSE
    

    Svenska (2017) - Socialstyrelsen
    
  • Anesthesia guidelines

    Deutsch (2022) - Orphananesthesia
    

    English (2022) - Orphananesthesia
    
  • Clinical practice guidelines

    English (2013) Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition - Dan Med J
    

    English (2022) von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance - Eur J Med Genet
    

    English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
    
  • Review article

    English (2014) - Oncol Res Treat
    
  • Clinical genetics review

    English (2011) - Eur J Hum Genet
    

    English (2025) Von Hippel-Lindau Syndrome - GeneReviews
    
  • Disability factsheet

    Dansk (2018) - Sjaeldne Diagnoser
    
  • Guidance for genetic testing

    English (2013) - Eur J Hum Genet
    
• Von Voss-Cherstvoy syndrome
  • Anesthesia guidelines

    English (2013) - Orphananesthesia
    

    Čeština (2013) - Orphananesthesia
    
• Von Willebrand disease
  • Article for general public

    Français (2006.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
  • Disability factsheet

    Dansk (2018) - Sjaeldne Diagnoser
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    

    English (2011) - Eur J Hum Genet
    
• Von Willebrand disease type 1
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    
• Von Willebrand disease type 2
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    
• Von Willebrand disease type 2A
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
• Von Willebrand disease type 2B
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
• Von Willebrand disease type 2M
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
• Von Willebrand disease type 2N
  • Article for general public

    Français (2009.pdf) - Orphanet
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
• Von Willebrand disease type 3
  • Article for general public

    Français (2009.pdf) - Orphanet
    

    Svenska (2023) - Socialstyrelsen
    
  • Emergency guidelines

    Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
    
  • Anesthesia guidelines

    English (2014) - Orphananesthesia
    

    Español (2014) - Orphananesthesia
    

    Čeština (2014) - Orphananesthesia
    
  • Clinical practice guidelines

    Français (2021) Maladie de Willebrand - PNDS
    

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

    Français (2021) Maladie de Willebrand type 3 - PNDS
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Blood Adv
    

    English (2021) ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease - Blood Adv
    

    中文 (2021) ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease - Zhonghua Xue Ye Xue Za Zhi
    
  • Clinical genetics review

    English (2024) von Willebrand Disease - GeneReviews
    
  • Guidance for genetic testing

    Français (2015.pdf) - ANPGM
    
• Vulvar intraepithelial neoplasia
  • Article for general public

    Deutsch (2019) - VulvaKarzinom-SHG
    
  • Clinical practice guidelines

    Deutsch (2015) - AWMF
    
• Vulvovaginal rhabdomyosarcoma
  • Clinical practice guidelines

    Deutsch (2020) - AWMF