Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
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Inborn errors of creatine metabolism and epilepsy.A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.A novel mouse model of creatine transporter deficiency.Autism-lessons from the X chromosome.Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Creatine transporter deficiency in two adult patients with static encephalopathy.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
P2860
Q30577669-50E763E4-990A-4072-9FBD-A15F7D8CEAA1Q30688972-161CEAB2-A77F-4F2A-80B7-5BBA7E187D7FQ34570300-97FF952C-39CC-4D89-9850-D85AFA79072FQ34872860-9806FAC3-E728-4D9E-91EA-D265E53619D2Q35644108-2417E20A-E617-45AB-81D9-3C1B069ACDE1Q36478674-1BA5D013-CFDE-4C0F-A12C-E79C17C84812Q37423172-05BFB8D2-2F75-435B-991F-6D67D7C6EBF0Q38208767-5A447454-E132-4C38-8833-1250CABF9C8AQ46694134-A6FBC76D-FB8E-476D-91AF-42EB353FE3F7Q50711007-2D86278D-90E1-48F9-8A97-0902544BE742Q51561465-000C4015-5CB3-40D4-A55A-AB3452987DA8
P2860
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
description
2005 nî lūn-bûn
@nan
2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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name
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@en
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@nl
type
label
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@en
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@nl
prefLabel
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@en
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@nl
P2093
P1433
P1476
Progressive intestinal, neurol ...... caused by an SLC6A8 mutation.
@en
P2093
Kleefstra T
Rosenberg EH
Salomons GS
de Vries BB
van Bokhoven H
P304
P356
10.1111/J.1399-0004.2005.00489.X
P577
2005-10-01T00:00:00Z