Results 151 to 160 of about 2,335 (161)

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Human Mutation, 2015
Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, Maria Jose Coll, Richard Sinnott, Tarekegn Geberhiwot, Bruno Bembi, Andrea Dardis   +9 more
openaire   +1 more source

Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1†‡

Human Mutation, 2004
Mirella Filocamo, Maja Di Rocco, Giancarlo Parenti   +2 more
exaly  

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease

American Journal of Medical Genetics, Part A, 2016
Gandham SriLakshmi Bhavani, Ashwin Dalal, Prajnya Ranganath   +2 more
exaly  

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

International Journal of Molecular Sciences, 2015
Behnam Kamalidehghan, Fatemeh Keshavarzi
exaly  

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients†

Human Mutation, 2009
Daniel Grinberg, Edward H Schuchman, Laura Gort Mas   +2 more
exaly  

A novel mutation in SMPD1 gene in a patient with Niemann-Pick disease

1th MPHBS Conference Proceedings (2016), 2016
openaire   +1 more source

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and hybridization to 11p15.1→p15.4

Genomics, 1991
Robert J. Desnick, Christine Disteche, Edward H Schuchman   +2 more
exaly  

Niemann-Pick Type a Disease with a Novel SMPD1 Variant - A Case Report

Clinical & Translational Metabolism
Aliye Gülbahçe, Ömer Karaca, Evrim Hepkaya, Merve Öztürk, Ali Korulmaz, Hüseyin Onay   +5 more
openaire   +1 more source

PHARMACEUTICAL COMPOSITION FOR PREVENTING OR TREATING OSTEOARTHRITIS, CONTAINING SMPD1 REGULATOR AS ACTIVE INGREDIENT

2023
CHOI JE-YONG, CHE XIANGGUO, JIN XIAN
openaire   +1 more source

Computational Analysis of SMPD1 Mutants and Their Binding Affinity with Desipramine: A Therapeutic Insight into Niemann–Pick Disease Type A

ChemistrySelect
Magesh Ramasamy, Shiek S S J Ahmed, Madhana Priya N   +2 more
exaly