about
hyperhomocysteinemiatyrosinemiacystinuriahypermethioninemiahyperlysinemiaHyperprolinemiaorganic acidemiaurea cycle disorderdicarboxylic aminoaciduriaHyperammonemiaargininosuccinic aciduriacerebral creatine deficiency syndromeserine deficiencygamma-amino butyric acid metabolism disorderhistidine metabolism diseasesulfuraminoacidemiaphenylketonuriaHartnup diseaseglycine encephalopathylysinuric protein intoleranceCongenital disorders of amino acid metabolismSystemic primary carnitine deficiency2-hydroxyglutaric aciduria3-methylcrotonyl-CoA carboxylase deficiencyBH4-deficient hyperphenylalaninemia AAdenine phosphoribosyltransferase deficiencyadenylosuccinase lyase deficiencyaminoaciduriaArakawa's syndrome IIBrunner Syndromecarbamoyl phosphate synthetase I deficiency diseasecystathioninuria5-oxoprolinase deficiencyhyperthreoninemiadisorder of tryptophan metabolismdisorder of lysine and hydroxylysine metabolismdisorder of glutamine metabolismdisorder of beta and omega amino acid metabolisminborn disorder of ornithine or proline metabolisminborn disorder of peptide metabolism
P279
P4044
Inborn errors in the metabolism of glutathioneMudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic reviewProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaThree new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyMass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic AcidemiasDiagnosis and management of glutaric aciduria type I--revised recommendations.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Single amino acid supplementation in aminoacidopathies: a systematic reviewDeranged tyrosine metabolism in cirrhosis.Amino acid synthesis deficiencies.Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
P921
Q1093815-A150643B-3F49-4135-BA17-FAE9A3663484Q1122668-E18D314B-9802-4C7E-8199-E93430E081B6Q1149046-38E36DB9-A8B0-4DB0-8553-E38410BD43D2Q11668635-25EA42D5-5D0B-44A7-B61C-E41B5554B72EQ13637039-0DA8D7F1-665A-472B-8535-33B958FEF0E0Q13637044-5374d49a-428f-b4de-c595-7ed93268b439Q1547640-EBEE277B-A980-4DE0-B2E5-EE66CADF9DBAQ1585743-E23A5B29-0C6C-48AF-8DD9-9BBD3C5C35F1Q16252204-6C77E588-1D8E-449C-A07F-A52551C323EFQ1640868-06c51919-43b9-2774-de43-a894d1c27835Q1654860-413AFBB4-7ADC-4EEB-9624-45E6C998A75DQ16908143-46D68C49-5A5A-4B3B-A9F2-DEFEBF1A7D54Q18553425-373AD2AB-AB0E-4B9C-A918-0B2572170904Q18553706-4816DF0E-03E3-4F79-B7EB-C757B0E661BFQ18558089-40E3DD4A-98E1-402E-8379-015EB3A1F28BQ19001322-d683bae8-41c4-5c3b-cdbc-dd6936105e2bQ194041-F9A0ABC8-0365-4210-AB3D-56520F168F64Q200985-D9ADD847-0BEC-4651-AA9C-89565CD782DAQ3053945-CD429362-7B5D-4968-A726-E778BCCACDB3Q3153671-48CA2CCC-2BA1-4784-A0B1-E52805BBC0F8Q3281372-2be455fe-4733-a34a-857e-fd1041994b5dQ3358135-3CBAEC1F-8DFA-4135-A718-8E7DF940837BQ4596888-DF7FA9D8-1CF6-4F47-838B-19E0306BECA1Q4634172-0CC7C362-1D2F-4165-BD38-63904E0F17B4Q4641554-28133A7A-BF3A-4BAB-BC84-F75BE2169385Q4682223-EF96351B-E452-4D70-BF58-4CB9979A0BA0Q4682317-220EA4A2-12BB-4495-8481-A4E7DF00122DQ4746440-48441cee-4730-48a2-4c31-4402609ea358Q4783806-AEB86C2D-823B-4570-B333-F5441627F8F4Q4979092-8E0B4EDD-E3F7-45CA-884A-2EC8B6120AB6Q5037834-831698E1-4DE5-4939-A3C0-22D4C100016AQ5201186-EE939411-C548-4CBB-A357-AEFD29BDEF03Q52611903-c097bfd4-458c-e15a-029f-f38aa71d7b95Q55782349-1efa7fdb-4548-75ac-c2ac-a4970af592b4Q55787001-3f69defc-4f42-ec61-2000-5367e33ef3e5Q55787002-e9af553d-44fe-e2cf-c3e6-26c9554d0fa5Q55787003-2423fe53-4b77-778e-3970-cc1f7f01092aQ55787280-18ead363-4c3b-b706-eb7c-4bd0255771f5Q55788551-2fbff0d4-4321-9a66-3a76-9e424c616bc4Q55788554-31b93a68-457d-58ae-58d1-db6c2bdf664f
P279
Q21203014-A11FE9CB-A41D-417C-94B7-5DF6077317ECQ26796411-D33B790C-D9CD-4E2B-BD4D-7E9586844FD9Q26798335-3F038753-9C99-4190-BDBA-3638D409C713Q26865440-11F29B7A-7892-4DCD-A77A-C1699E0EC20DQ27013643-23EC0FE5-384C-4BA4-9579-06D78ED00998Q28077293-90CA8AAC-7457-4F6B-9A9E-F4970C190A6AQ34172908-ADBC80AE-1A25-46E7-9BEA-9DC8A3FBB3A1Q37591499-52B3E79C-9F53-4CB4-9BC5-01147C35A495Q38178339-33D8F995-61C0-409B-860E-6E353915813CQ39254570-0DD129C4-8F3F-427D-8B91-760DC211874CQ39400023-D3741143-069A-421F-B245-C3282761177FQ45492177-EFB5016C-6787-4360-9013-F9723E28E364
P921
description
Krankheit
@de
inherited metabolic disorder t ...... and degradation of amino acids
@en
مرض بشري
@ar
name
amino acid metabolic disorder
@en
aminoacido-metabolisma malsano
@eo
forstyrring i aminosyremetabolismen
@nn
maladie du métabolisme des acides aminés
@fr
salwch metabolig asid amino
@cy
trastorn metabòlic d'aminoàcids
@ca
اضطراب التمثيل الغذائي للحمض الأميني
@ar
type
label
amino acid metabolic disorder
@en
aminoacido-metabolisma malsano
@eo
forstyrring i aminosyremetabolismen
@nn
maladie du métabolisme des acides aminés
@fr
salwch metabolig asid amino
@cy
trastorn metabòlic d'aminoàcids
@ca
اضطراب التمثيل الغذائي للحمض الأميني
@ar
altLabel
inborn errors of amino acid metabolism
@en
trastorn del metabolisme dels aminoàcids
@ca
trouble du métabolisme des acides aminés
@fr
prefLabel
amino acid metabolic disorder
@en
aminoacido-metabolisma malsano
@eo
forstyrring i aminosyremetabolismen
@nn
maladie du métabolisme des acides aminés
@fr
salwch metabolig asid amino
@cy
trastorn metabòlic d'aminoàcids
@ca
اضطراب التمثيل الغذائي للحمض الأميني
@ar
P486
P1550
P1748
P2892
P31
P4229
P486
P5270
MONDO:0004736
P672
C16.320.565.100
C18.452.648.100