Results 71 to 80 of about 2,335 (161)

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

International Journal of Neonatal Screening
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and ...
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina   +7 more
doaj   +1 more source

Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency

Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori, Veronica Maria Tagi, Silvia Beretta, Chiara Montanari, Ilenia Pia Greco, Gianvincenzo Zuccotti, Enza D'Auria   +6 more
wiley   +1 more source

DOENÇA DE NIEMANN-PICK TIPO B NO ADULTO - RELATO DE CASO

Hematology, Transfusion and Cell Therapy
Introdução: A doença de Niemann-Pick é uma doença genética autossômica recessiva caracterizada pela mutação no gene da esfingomielina fosfodiesterase-1 (SMPD1).
LO Falcão, RDA Soares, FAAES Junior, NC Conrrado   +3 more
doaj   +1 more source

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Orphanet Journal of Rare Diseases, 2013
Background Clinical observations and molecular analysis of the SMPD1 gene in Chinese patients with acid sphingomyelinase deficiency Niemann-Pick disease (NPD) are scarce.
Zhang Huiwen, Wang Yu, Gong Zhuwen, Li Xiaoyan, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan   +7 more
doaj   +1 more source

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Case Reports in Genetics, 2019
Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed.
Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra   +6 more
doaj   +1 more source

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

AnMsplpolymorphism in the human acid sphingomyelinase gene (SMPD1) [PDF]

Nucleic Acids Research, 1991
E H, Schuchman, O, Levran, M, Suchi, R J, Desnick   +3 more
openaire   +2 more sources

THE SMPD1 GENE MUTATIONS IN TWO SIBLINGS WITH NIEMANN-PEAK TYPE A/B DISEASE

, 2020
Purpose of work. Niemann–Pick type A/B disease in children was investigated. Niemann–Pick type A disease is the most severe form that begins in infants, characterized by an increase in the hepatosplenomegaly and progressive damage to the nervous system.
openaire   +1 more source

Issue Information

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
wiley   +1 more source

SMPD1 Gene [PDF]

, 2020
openaire   +1 more source