Two siblings with niemann-pick disease (NPD) type B: Clinical findings and novel mutations of the acid sphingomyelinase gene

Indian Journal of Pediatrics

Volumn 80, Issue 2, 2013, Pages 163-164

  Gucev, Zoran ^a   Tasic, Velibor ^a   Pop Jordanova, Nada ^a   Jancevska, Aleksandra ^a   Simonaro, Calogera M ^b   Schuchmann, Edward H ^b  

^a SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Niemann Pick disease (NPD) type B; Novel mutation; Severe phenotype; V112M H554Y

Indexed keywords

BETA GALACTOSIDASE; GLUCOSYLCERAMIDASE; SPHINGOMYELIN PHOSPHODIESTERASE; THYROTROPIN; THYROXINE;

ACID SPHINGOMYELINASE GENE; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; GENE; HEPATOMEGALY; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; LUNG EDEMA; LUNG INFILTRATE; MALE; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; SIBLING; SKIN BIOPSY; THORAX RADIOGRAPHY;

ADOLESCENT; CHILD, PRESCHOOL; FEMALE; HUMANS; MACEDONIA (REPUBLIC); MALE; MUTATION; NIEMANN-PICK DISEASE, TYPE B; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84877078129     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-012-0717-9     Document Type: Article

References (5)

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