A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic

Annals of Clinical Biochemistry

Volumn 51, Issue 5, 2014, Pages 615-618

  Grasko, Yael ^a   Hooper, Amanda J ^a,b,c   Burnett, John R ^a,b   Watts, Gerald F ^a,b  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

genetics; inborn errors of metabolism; Lipids

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; CARBON MONOXIDE; DNA; GAMMA GLUTAMYLTRANSFERASE; HEMOGLOBIN A1C; HYDROCORTISONE; LIVER ENZYME; LYSOSOME ENZYME; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1; UNCLASSIFIED DRUG; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ADULT; ARTICLE; ATHEROSCLEROSIS; BODY MASS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CORONARY ARTERY CALCIUM SCORE; CRACKLE; DNA SEQUENCE; FLOW RATE; HEART AUSCULTATION; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERBILIRUBINEMIA; INTERSTITIAL LUNG DISEASE; LUNG AUSCULTATION; LUNG DIFFUSION CAPACITY; LUNG FUNCTION TEST; LUNG VOLUME; MALE; MIDDLE AGED; MISSENSE MUTATION; NIEMANN PICK DISEASE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SOUTH AFRICAN; THROMBOCYTOPENIA; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; NIEMANN-PICK DISEASE, TYPE B;

HETEROZYGOTE; HUMANS; LIPID METABOLISM DISORDERS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NIEMANN-PICK DISEASE, TYPE B; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84906342933     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1177/0004563214527067     Document Type: Article

References (11)

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