Difficulty in recognizing multiple sulfatase deficiency in an infant

Pediatrics

Volumn 117, Issue 3, 2006, Pages 955-958

  Santos, Roberto P ^a,b   Hoo, Joe J ^a  

^a State University of New York Upstate Medical University: College of Medicine   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Broad and angulated thumbs and great toes; Multiple sulfatase deficiency; Posttranslational defect

Indexed keywords

GLYCOSAMINOGLYCAN;

ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CELL INCLUSION; CHROMOSOME 9; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; ENZYME ASSAY; FEMALE; FIBROBLAST; FOLLOW UP; GENETIC ANALYSIS; HOSPITAL ADMISSION; HOSPITAL READMISSION; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPE 46,XX; LABORATORY TEST; LEUKOCYTE; LYSOSOME STORAGE DISEASE; MULTIPLE SULFATASE DEFICIENCY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; URINALYSIS; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; HALLUX; LIPIDOSIS; THUMB;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HALLUX; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; SPHINGOLIPIDOSES; THUMB;

EID: 33645017240     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-1032     Document Type: Article

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