Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder

Journal of Human Genetics

Volumn 49, Issue 12, 2004, Pages 656-663

  Ishiwari, Kouhei ^a   Kotani, Masaharu ^b   Suzuki, Minoru ^c   Pumbo, Elena ^c   Suzuki, Akemi ^c   Kobayashi, Toshihide ^c   Ueno, Tamaki ^a   Fukushige, Tomoko ^d   Kanzaki, Tamotsu ^d   Imada, Masato ^e   Itoh, Kohji ^f   Akioka, Shinji ^g   Tajima, Youichi ^b   Sakuraba, Hitoshi ^b  

^a Ayabe Municipal Hospital   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c RIKEN   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e NIHON UNIVERSITY   (Japan)

^f UNIVERSITY OF TOKUSHIMA   (Japan)

^g KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

Infantile free sialic acid storage disease; Lectin; Mass spectrometry; Proteinuria; Salla disease; Sialic acid

Indexed keywords

GLYCOCONJUGATE; LECTIN; N ACETYLNEURAMINIC ACID; SIALIC ACID; SIALIC ACID DERIVATIVE;

ARTICLE; CAPILLARY ENDOTHELIUM; CASE REPORT; CELL TRANSPORT; CELL VACUOLE; CHEMICAL ANALYSIS; CLINICAL STUDY; COARSE FACE; CYTOCHEMISTRY; ENDOSOME; ENDOTHELIUM CELL; GROWTH RETARDATION; HUMAN; HURLER SYNDROME; IMMUNOHISTOCHEMISTRY; INGUINAL HERNIA; KIDNEY DISEASE; KIDNEY PARENCHYMA; LYSOSOME; MALE; MASS SPECTROMETRY; MESANGIUM CELL; METABOLIC DISORDER; MITRAL VALVE REGURGITATION; PODOCYTE; PRESCHOOL CHILD; PROTEIN METABOLISM; PROTEINURIA; SIALIC ACID STORAGE DISEASE; THIN LAYER CHROMATOGRAPHY; UMBILICAL HERNIA; URINALYSIS;

BIOLOGICAL TRANSPORT; CHILD, PRESCHOOL; ENDOTHELIAL CELLS; HUMANS; JAPAN; KIDNEY DISEASES; KIDNEY TUBULES; LYSOSOMES; MALE; N-ACETYLNEURAMINIC ACID; SIALIC ACID STORAGE DISEASE;

EID: 19944431963     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0203-y     Document Type: Article

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