The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
about
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.Mutation analysis in glutaric aciduria type I.3-Sulfinopropionyl-coenzyme A (3SP-CoA) desulfinase from Advenella mimigardefordensis DPN7(T): crystal structure and function of a desulfinase with an acyl-CoA dehydrogenase foldGlutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.Glutaric aciduria type 1 as a cause of dystonic cerebral palsyDisease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.Glutaric Acidemia Type 1: A Case of Infantile Stroke.Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.Glutaric AciduriaType 1: Clinical and Molecular Study in Iranian Patients, 3 Novel Mutations.Heparan sulfate mediates neuroprotection from degeneration in experimental glutaric aciduria.
P2860
Q30416454-BD420553-50E7-4868-A466-2EE0F395D93CQ35434260-B246F494-344A-476F-AF27-B0DE8BDC0F7AQ35704276-58DB324B-9395-4D75-83F4-8FF1E6EDC6B3Q35752508-C8390344-B8E4-4686-ACCD-75A776894AD5Q36356658-66768E0A-91F9-4F75-9D69-B803AA17F5F2Q39034891-2D154978-49B7-4754-A000-D634AD180AADQ40250175-A5747665-F649-479F-93A8-793844E57C1DQ41146890-FE06BA73-68A5-4BA5-BEFA-CF169CCC21E9Q42540202-165D092F-9ED0-458D-B1B2-303D9D5DB21CQ44124840-6E72478E-A121-4EBF-9C20-05EE0CA648ADQ47287664-EC715262-4E14-4CA7-A558-9B4CF33F3D9DQ48167479-D91E1DC6-5009-474F-999B-C81A1B99D2FC
P2860
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@en
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@nl
type
label
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@en
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@nl
prefLabel
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@en
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@nl
P2093
P356
P1433
P1476
The human glutaryl-CoA dehydro ...... sing glutaric aciduria type I.
@en
P2093
Christensen E
Schwartz M
Superti-Furga A
P2888
P304
P356
10.1007/S004390050720
P577
1998-04-01T00:00:00Z