Infant with type a niemann pick disease and undetectable niemann pick cells in bone marrow

Indian Pediatrics

Volumn 49, Issue 6, 2012, Pages 490-492

  Mukherjee, Sharmila Banerjee ^a   Pandey, Meenu ^a   Kapoor, Seema ^b   Priya, T Padma ^c  

^a KALAWATI SARAN CHILDREN'S HOSPITAL   (India)

^b LOK NAYAK HOSPITAL   (India)

^c CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

Bone marrow; Diagnosis; Niemann pick disease type A; Storage cells

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ABDOMINAL DISTENSION; ARTICLE; BONE MARROW BIOPSY; BONE MARROW CELL; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; GENE; GENE MUTATION; GM1 GANGLIOSIDOSIS; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; NIEMANN PICK CELL; NIEMANN PICK DISEASE; PHENOTYPE; SANDHOFF DISEASE; SPINGOMYELIN PHOSPHODIESTERASE 1 GENE; STOP CODON;

BONE MARROW CELLS; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MALE; MUTATION; NIEMANN-PICK DISEASE, TYPE A; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84866007621     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: 10.1007/s13312-012-0095-4     Document Type: Article

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