about
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinNeurometabolic diseases of childhood.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Case definition and classification of leukodystrophies and leukoencephalopathies.Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.
P2860
Q28592315-E1906641-5F26-4586-8150-72CF64E3A032Q30992008-B477796A-CEB4-400C-BB23-FD4C7D6EDCD4Q34135484-A6F86765-FE68-43F5-B022-294AE5D81E17Q35328326-08EAE429-D806-46D8-A3DB-1DC8DCA845DBQ41164503-FC284F83-3874-4DA3-8AE5-17404015A0A8Q43096433-8E41D3D9-0E55-4DC5-ACD2-20791EF0CBDCQ48461808-57EFE3F7-1FD1-43FD-88ED-4B7FED5C11CE
P2860
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Hypomyelination versus delayed myelination.
@en
Hypomyelination versus delayed myelination.
@nl
type
label
Hypomyelination versus delayed myelination.
@en
Hypomyelination versus delayed myelination.
@nl
prefLabel
Hypomyelination versus delayed myelination.
@en
Hypomyelination versus delayed myelination.
@nl
P356
P1433
P1476
Hypomyelination versus delayed myelination.
@en
P2093
Marjo S van der Knaap
P356
10.1002/ANA.21751
P577
2010-07-01T00:00:00Z