Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B

European Journal of Human Genetics

Volumn 24, Issue 2, 2016, Pages 208-213

  Acuña, Mariana ^a,b   Martínez, Pablo ^a,b   Moraga, Carol ^b,c   He, Xingxuan ^d   Moraga, Mauricio ^e   Hunter, Bessie ^f   Nuernberg, Peter ^g   Gutiérrez, Rodrigo A ^b,c   González, Mauricio ^b,h   Schuchman, Edward H ^d   Luis Santos, José ^c   Miquel, Juan Francisco ^a,b   Mabe, Paulina ⁱ   Zanlungo, Silvana ^a,b  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b FONDAP Center for Genome Regulation (CGR)   (Chile)

^c PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF CHILE   (Chile)

^f HOSPITAL LUIS CALVO MACKENNA   (Chile)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITY OF CHILE   (Chile)

ⁱ Pediatra Reumatólogo Unidad Inmuno Reumatología Hospital Dr Exequiel González Cortés   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CHOLESTEROL; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; MITOCHONDRIAL DNA; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELIN PHOSPHODIESTERASE 1; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; SPHINGOMYELIN PHOSPHODIESTERASE 1, HUMAN;

ABDOMINAL PAIN; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ANEMIA; ANOREXIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BONE PAIN; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; DYSLIPIDEMIA; DYSPNEA; ENZYME REPLACEMENT; EPISTAXIS; FEMALE; FIBROBLAST; FOLLOW UP; GENE FREQUENCY; GENETIC VARIABILITY; GINGIVA BLEEDING; HAPLOTYPE; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; INCIDENCE; LEUKOCYTE; LIVER CIRRHOSIS; MALE; MORBIDITY; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; THROMBOCYTOPENIA; TRIACYLGLYCEROL BLOOD LEVEL; BIOSYNTHESIS; CHEMISTRY; CHILE; FOUNDER EFFECT; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; NIEMANN-PICK DISEASE, TYPE B; PEDIGREE;

CHILE; DNA, MITOCHONDRIAL; FEMALE; FOUNDER EFFECT; GENOTYPE; HAPLOTYPES; HUMANS; MIDDLE AGED; MUTATION; NIEMANN-PICK DISEASE, TYPE B; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84954373368     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.89     Document Type: Article

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