%D9%86%D9%82%D8%B5_%D9%86%D8%A7%D8%B2%D8%B9%D8%A9_%D9%87%D9%8A%D8%AF%D8%B1%D9%88%D8%AC%D9%8A%D9%86_%D8%A7%D9%84%D8%A3%D8%B3%D9%8A%D9%84-%D8%A7%D9%84%D8%A5%D9%86%D8%B2%D9%8A%D9%85_%D8%A7%D9%84%D9%85%D8%B4%D8%AA%D8%B1%D9%83_%D8%A5%D9%8A%D9%87_%D9%85%D8%AA%D9%88%D8%B3%D8%B7_%D8%A7%D9%84%D8%B3%D9%84%D8%B3%D9%84%D8%A9McaddMedium-Chain-Acyl-CoA-Dehydrogenase-MangelMedium-chain_acyl-coenzyme_A_dehydrogenase_deficiencyD%C3%A9ficit_en_acyl-coenzyme_A_d%C3%A9shydrog%C3%A9nase_des_acides_gras_%C3%A0_cha%C3%AEne_moyenneMedium_chain_acyl_co-enzym-A_dehydrogenase-defici%C3%ABntieMCAD-bristQ750826
about
P2293
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyMedium chain acyl-CoA dehydrogenase deficiencyMedium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceMedium chain acyl-CoA dehydrogenase deficiency human genome epidemiology reviewUrinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography methAnalysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiencyAbnormal urinary excretion of unsaturated dicarboxylic acids in patients with medium-chain acyl-CoA dehydrogenase deficiencyEvaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babiesFeature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiencyThe first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .Screening for medium chain acyl-CoA dehydrogenase deficiency is being evaluatedMolecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesMedium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningNewborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
P921
Q54838535-1DB24FCF-3791-49EA-8C33-97B15B33D5A5Q54841969-C9CD25C7-09CA-47F0-A53E-839EC61EF648Q54841970-665A094C-FA19-4299-89EC-298B764D5A25Q54842184-87F67162-074F-47BB-B723-D91975907788Q54842823-0A5D3589-E795-455B-9DAB-078196B23AB9Q54842956-F4A099DF-9EA7-4274-A04C-C65A4B9E35E4Q54842958-805EE661-A272-4EF9-BC19-58C5E0D5EC5BQ54843247-5D367A07-733A-46C7-B8AB-CB2884B2D331Q54843283-D28EAAD0-63B4-471D-9F55-BD9D3636F930Q54845003-762A5AEE-287D-4F6A-85AB-552EB76D2C4BQ54846414-DD38E28B-5F7D-4A57-A8CC-1BE631FF2578Q54851737-81BFA654-68B9-49EB-8941-03C99B8DFBE1Q54853115-A438EC13-1E0B-4A9C-9B06-AF5DECAC7DC9Q54853116-A66DBF9D-244D-4850-B7B1-430214F72314Q54853440-4A052716-B5BC-412C-838C-2E7C703D1A44Q54853839-0114AC77-61FA-4489-BB13-13E5EA9BE5A4
P5166
Q24316927-D1A874C4-6F31-49F8-9E9C-B176DD3954AFQ24678149-45F3100B-44B1-4D15-AE60-535F6055DC32Q24814997-7A657CA5-E8E7-43E2-AE09-5D0FFD3387A9Q28206131-39C90467-C0CC-415C-BF31-C6A1D86BBF84Q28320965-58452701-76DE-4738-862E-4B97363BE79CQ28332118-ABB9AE7A-5182-4FA4-BCA4-02DB57A7313FQ28335739-FD20150C-5EC9-429B-876A-5F026AEED4EFQ28346551-37E4A296-DC80-4B34-8047-EF4F13368075Q31113170-07B4DCB7-E549-4069-AE42-77C49F38DAA7Q33641855-CC1928F5-D78E-4C31-BBF6-7371DBD0CF2BQ33733702-4ADC7144-1447-4A28-8B27-204146156A22Q33749006-FBF7A1A6-53F4-482A-AC09-6F9A706D04C4Q33774807-BFB46BA5-74C1-4EE9-8FDC-05682B8D89F3Q33802022-6EF8BB0C-6FB9-452C-9607-8E94F885696FQ33803651-8E72CA9E-5266-4F55-A72C-F34DD09B76DDQ33805262-FBF2B508-2460-4E2D-BE67-AF87F9FD5107Q33911607-BEB96B9C-9556-428F-A987-79465BF8EC1EQ34164301-A75B89D9-95EF-4F09-B7E9-588794F4338DQ34167149-62C34E45-6D7B-4436-AB26-133C6C4BE67DQ34297808-F2831F60-2EA4-46DF-B899-B0A6035FF5C7Q35034183-F2432A59-4BF2-477A-B0C8-1C9282BA8032Q35260553-C13A61B1-9010-4080-991F-DAD102DBBBE5Q35531329-50E48DAB-9F09-4867-8364-B246FB12CD3DQ35531333-89DDC4E4-6968-4C93-B2EF-9A382E89863BQ35574306-31BC04C0-E5AF-41D8-A0FA-53B6808286E1Q35589092-2B1D7BBF-C746-4D1D-9202-C35396996B09Q35626478-3D11E4A5-AE05-473A-80B8-110F08287DE1Q35724819-63612663-B678-4910-AABE-412AF4F6F3D6Q35795411-936F0543-DD89-46DF-A79F-B1FE916A8086Q35795433-8047C2F0-7EB9-4AD7-8675-7353EF358ED6Q35903905-88DE4438-5986-496B-8FB2-726C9AB3AFA3Q36054005-841597E4-0958-4F9E-BB29-64912DD4A5C6Q36190148-3C96E95F-0A9E-415D-8F0A-D6613AD8D70FQ36208261-FBB51448-D03A-4273-B343-448BDB159A8EQ36450404-8053104D-2431-4CF2-8646-D6833968B854Q36501339-9EF5DD9A-9C4E-433A-BB42-471105C4C3DFQ36543005-2DA05E9E-DB54-4FCC-B411-A9CF2E1B55DFQ36707874-644F827D-3022-4870-9FF0-92C91867DAC0Q36887927-F055E357-F1DB-4E0B-A6CB-06BFCBEF5737Q37033554-49DC0CF3-7769-432D-8DB0-ED88F124ACB6
P921
description
Krankheit
@de
lipid metabolism disorder that ...... y, particularly during fasting
@en
zaburzeniem utleniania kwasów tłuszczowych
@pl
مرض يصيب الإنسان
@ar
name
MCAD-brist
@sv
Mcadd
@da
Medium chain acyl co-enzym-A dehydrogenase-deficiëntie
@nl
Medium-Chain-Acyl-CoA-Dehydrogenase-Mangel
@de
Niedobór dehydrogenazy acylo-koenzymu A średniołańcuchowych kwasów tłuszczowych
@pl
déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne
@fr
medium chain acyl-CoA dehydrogenase deficiency
@en
نقص نازعة هيدروجين الأسيل-الإنزيم المشترك إيه متوسط السلسلة
@ar
中鏈醯基輔酶缺乏症
@zh
type
label
MCAD-brist
@sv
Mcadd
@da
Medium chain acyl co-enzym-A dehydrogenase-deficiëntie
@nl
Medium-Chain-Acyl-CoA-Dehydrogenase-Mangel
@de
Niedobór dehydrogenazy acylo-koenzymu A średniołańcuchowych kwasów tłuszczowych
@pl
déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne
@fr
medium chain acyl-CoA dehydrogenase deficiency
@en
نقص نازعة هيدروجين الأسيل-الإنزيم المشترك إيه متوسط السلسلة
@ar
中鏈醯基輔酶缺乏症
@zh
altLabel
ACADMD
@en
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
@en
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
@en
Acadm Deficiency
@en
Acyl-CoA Dehydrogenase, Medium-Chain Deficiency
@en
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency
@en
MCAD deficiency
@en
MCAD deficientie
@nl
MCAD deficiëntie
@nl
MCAD
@en
prefLabel
MCAD-brist
@sv
Mcadd
@da
Medium chain acyl co-enzym-A dehydrogenase-deficiëntie
@nl
Medium-Chain-Acyl-CoA-Dehydrogenase-Mangel
@de
Niedobór dehydrogenazy acylo-koenzymu A średniołańcuchowych kwasów tłuszczowych
@pl
déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne
@fr
medium chain acyl-CoA dehydrogenase deficiency
@en
نقص نازعة هيدروجين الأسيل-الإنزيم المشترك إيه متوسط السلسلة
@ar
中鏈醯基輔酶缺乏症
@zh
P279
P2888
P486
P646
P1417
topic/medium-chain-acyl-CoA-dehydrogenase-deficiency
P1692
P1748
P1995
P2293
P2892
P3471
P486
P492
P493
P494
P5270
MONDO:0008721
P646
P673
P699
DOID:0080153