Free sialic acid storage disease without sialuria

Annals of Neurology

Volumn 65, Issue 6, 2009, Pages 753-757

  Mochel, Fanny ^a,b   Yang, Bingzhi ^b   Barritault, Julie ^c   Thompson, Jerry N ^d   Engelke, Udo F H ^e   McNeill, Nathan H ^b   Benko, William S ^f   Kaneski, Christine R ^b   Adams, David R ^g   Tsokos, Maria ^h   Abu Asab, Mones ^h   Huizing, Marjan ^g   Seguin, Francois ^c   Wevers, Ron A ^e   Ding, Jiahuan ^b   Verheijen, Frans W ⁱ   Schiffmann, Raphael ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b BAYLOR RESEARCH INSTITUTE   (United States)

^c UNIVERSITÉ DE POITIERS   (France)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Wellspan Neurology   (United States)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h NATIONAL CANCER INSTITUTE   (United States)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SIALIC ACID;

ABNORMAL URINE COMPOSITION; ADOLESCENT; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; GENE; GENE MUTATION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; LEUKODYSTROPHY; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SIALIC ACID STORAGE DISEASE; SIALIC ACID URINE LEVEL; SIBLING; SLC17A5 GENE; URINALYSIS; URINARY EXCRETION;

ADOLESCENT; CHILD; DIAGNOSIS, DIFFERENTIAL; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; N-ACETYLNEURAMINIC ACID; NUCLEAR MAGNETIC RESONANCE, BIOMOLECULAR; ORGANIC ANION TRANSPORTERS; SIALIC ACID STORAGE DISEASE; SYMPORTERS; YOUNG ADULT;

EID: 67650070762     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21624     Document Type: Article

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