%D8%A8%D9%8A%D9%84%D8%A9_%D9%87%D9%88%D9%85%D9%88%D8%B3%D9%8A%D8%B3%D8%AA%D9%8A%D9%86%D9%8A%D8%A9Homocistin%C3%BAriaCategory:HomocystinuriaHomocystinurieHomocystinuriaHomocistinuria%D9%87%D9%85%D9%88%D8%B3%DB%8C%D8%B3%D8%AA%DB%8C%D9%86%D9%88%D8%B1%DB%8CHomocystinurieOmocistinuria%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87Homocistinurija%D0%A5%D0%BE%D0%BC%D0%BE%D1%86%D0%B8%D1%81%D1%82%D0%B8%D0%BD%D1%83%D1%80%D0%B8%D1%98%D0%B0HomocystinurieHomocystynuriaHomocistin%C3%BAriaHomocystinuriQ994859%E9%AB%98%E8%83%B1%E8%83%BA%E9%85%B8%E5%B0%BF%E7%97%87
about
OT-58 as an Enzyme Replacement Therapy for Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (CBSDH)Betaine METABOLISM OF PATIENTS With HomocystinuriaEPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentOxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineHomocystinuria: Treatment With N-AcetylcysteineEffects of Exercise on Metabolic Parameters in Classical HomocystinuriaStudy of Homocysteine Metabolism in HomocystinuriaEffect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on HomocystinuriaNatural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH)
P1050
P2175
P4044
Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literatureNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
P921
Q63404152-36B119B5-C3C6-44FA-B22E-2E3BB29E8E76Q64393462-776EC26F-46C1-4C93-A849-7AC1E1DAA692Q64634667-A59E4D20-8F7D-4B5C-B181-538E586E66EEQ64652450-994DE344-9A6E-4FA0-8EA5-750961142428Q65381624-2B592C6F-6928-4AF4-A944-24685819A90DQ66061257-B04AFB4A-5958-4182-831D-F3A0C415D37CQ66062028-55513A69-DF09-43C3-A384-9681B8649116Q66062261-C7DCEB7B-47B4-484E-AF04-7CEFC704EDF9Q66077593-14A2AC98-3226-4AE1-88FE-0602E587BBC7
P1050
description
Krankheit
@de
amino acid metabolic disorder ...... n of homocysteine in the urine
@en
malattia rara, dovuta a un errore congenito del metabolismo
@it
name
Homocistinurija
@lt
Homocystinuria
@rup
Homocystinurie
@de
Homocystinurie
@nl
Homocystynuria
@pl
homocistinuria
@es
homocistinúria
@ca
homocistinúria
@pt
homocystinuri
@nn
homocystinuri
@sv
type
label
Homocistinurija
@lt
Homocystinuria
@rup
Homocystinurie
@de
Homocystinurie
@nl
Homocystynuria
@pl
homocistinuria
@es
homocistinúria
@ca
homocistinúria
@pt
homocystinuri
@nn
homocystinuri
@sv
altLabel
CBS deficiency
@en
CBS-mangel
@nn
HCU
@nn
Homocystinuria (disorder)
@en
cystathionine beta synthase deficiency
@en
cystathionine synthase deficiency
@en
cystationin-beta-syntasemangel
@nn
cystationin-β-syntasemangel
@nn
homocystinuria
@en
prefLabel
Homocistinurija
@lt
Homocystinuria
@rup
Homocystinurie
@de
Homocystinurie
@nl
Homocystynuria
@pl
homocistinuria
@es
homocistinúria
@ca
homocistinúria
@pt
homocystinuri
@nn
homocystinuri
@sv
P2888
P492
P672
P486
P5806
P6366
P646
P672
P1417
science/homocystinuria
P1461
homocystinuria