Vanishing white matter disease: the first reported chinese patient.

Wong, Sheila S N; Luk, David C K; Wong, Virginia C N; Scheper, Gert C; van der Knaap, Marjo S

Wong, Sheila S N; Luk, David C K; Wong, Virginia C N; Scheper, Gert C; van der Knaap, Marjo S.

Affiliation

Wong SS; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kowloon, Hong Kong SAR, China. snsheilawong@yahoo.com.hk

J Child Neurol ; 23(6): 710-4, 2008 Jun.

Article in En | MEDLINE | ID: mdl-18539998

Subject(s)

DNA Mutational Analysis; Eukaryotic Initiation Factor-2B/genetics; Hereditary Central Nervous System Demyelinating Diseases/genetics; Aspartic Acid/analogs & derivatives; Aspartic Acid/analysis; Brain/pathology; Cerebral Ventricles/pathology; Child; Choline/analysis; Consanguinity; Female; Genetic Carrier Screening; Genetic Counseling; Genotype; Hereditary Central Nervous System Demyelinating Diseases/diagnosis; Homozygote; Hong Kong; Humans; Lactic Acid/analysis; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Neurologic Examination; Pedigree; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Hereditary Central Nervous System Demyelinating Diseases / Eukaryotic Initiation Factor-2B Type of study: Diagnostic_studies Limits: Child / Female / Humans Country/Region as subject: Asia Language: En Journal: J Child Neurol Year: 2008 Document type: Article

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