The inborn errors of sialic acid metabolism and their laboratory investigation

Clinical Laboratory

Volumn 52, Issue 3-4, 2006, Pages 155-169

  Gopaul, Karina P ^a   Crook, Martin A ^b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITAL LEWISHAM   (United Kingdom)

Author keywords

Assay; Inborn errors of metabolism; SASD; Sialic acid; Sialic acid storage disease; Sialidosis; Sialuria

Indexed keywords

CYTIDINE PHOSPHATE N ACETYLNEURAMINIC ACID; EPIMERASE; MEMBRANE PROTEIN; SIALIC ACID; SIALIDASE; SIALIN; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

AUTOSOMAL DOMINANT DISORDER; BIOCHEMISTRY; CARBOHYDRATE METABOLISM; CHROMATOGRAPHY; CLINICAL FEATURE; CLINICAL TRIAL; COLORIMETRY; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; ENZYMATIC ASSAY; FLUORESCENCE ANALYSIS; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; INBORN ERROR OF SIALIC ACID METABOLISM; LABORATORY TEST; MOLECULAR DYNAMICS; NONHUMAN; PHENOTYPE; POINT MUTATION; PRENATAL DIAGNOSIS; PREVALENCE; REVIEW; SCREENING TEST; SIALIC ACID STORAGE DISEASE; SIALIC ACID URINE LEVEL; SIALIDOSIS; URINALYSIS; URINE LEVEL;

CHEMISTRY, CLINICAL; HUMANS; MASS SCREENING; MUCOLIPIDOSES; N-ACETYLNEURAMINIC ACID; PRENATAL DIAGNOSIS; SIALIC ACID STORAGE DISEASE;

EID: 33645582714     PISSN: 14336510     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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