Results 61 to 70 of about 2,335 (161)

Identification and characterization ofSMPD1mutations causing Niemann-Pick types A and B in Spanish patients [PDF]

Human Mutation, 2009
Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms.
Laura, Rodríguez-Pascau, Laura, Gort, Edward H, Schuchman, Lluïsa, Vilageliu, Daniel, Grinberg, Amparo, Chabás   +5 more
openaire   +2 more sources

Chromosomal microarray and whole‐exome sequence analysis in Taiwanese patients with autism spectrum disorder

Molecular Genetics & Genomic Medicine, 2019
Background Autism spectrum disorder (ASD) is defined as a group of genetically and clinically heterogeneous neurodevelopmental disorders. Interplay between de novo and inherited rare variants has been suspected in the development of ASD. Methods Here, we
Ya‐Sian Chang, Chien‐Yu Lin, Hsi‐Yuan Huang, Jan‐Gowth Chang, Haung‐Tsung Kuo   +4 more
doaj   +1 more source

Oleoylethanolamide regulates intestinal stem cell activity and villus size via PPARα signaling pathway

iMetaOmics, Volume 3, Issue 1, March 2026.
First use of a natural swine model with lipid metabolism to directly link lipid differences to a quantifiable intestinal villus height phenotype. Identified the phospholipid‐derived oleoylethanolamide, rather than canonical fatty acids, as the endogenous primary ligand that activates peroxisome proliferator‐activated receptors α (PPARα) to enlarge ...
Qianqian Wang, Lanmei Yin, Zhaobin Wang, Jun Li, Xianglin Zeng, Qiye Wang, Jianzhong Li, Kang Xu, Huansheng Yang, Yulong Yin   +9 more
wiley   +1 more source

Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand

Global Pediatrics
We report a 7-month-old Thai girl diagnosed with a Niemann-Pick Disease (NPD) Type A. Hepatosplenomegaly was initially noticed at the age of 2 months. She developed progressive neurodevelopmental delay at 5 months.
Thitima Ngoenmak, Julintorn Somran, Montana Foonoi, Klaita Srisingh, Nun Singpan, Thipwimol Tim-Aroon   +5 more
doaj   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene

Stem Cell Research, 2019
Niemann-Pick disease type A (NPA) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for the protein acid sphingomyelinase.
Amanda Baskfield, Rong Li, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng   +5 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

Egyptian Journal of Medical Human Genetics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez, Jorge Álvarez-Longoria, Beatriz De la Fuente-Cortez, Valentina Martínez-Montoya, Ekaterina Sánchez-Romero   +4 more
doaj   +1 more source

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports, 2015
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang   +9 more
doaj   +1 more source