Results 61 to 70 of about 2,188 (120)

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, 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

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

Issue Information

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

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency

Genetics in Medicine Open
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +1 more source

Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing

Frontiers in Genetics
Niemann Pick disease B (NPB) often presents with hepatosplenomegaly and lung pathological changes, but it usually does not present with central nervous system symptoms. This report presents the unique case of a 21-year-old woman with a 10-year history of
Fang Wu, Dongying Su, Weisi Wang, Xia Song, Shufeng Fan, Jinzhan Su, Linying Ma, Jianxia Xu, Qinpan Rao   +8 more
doaj   +1 more source

Modular inflammation network discovery from large-scale phenotypic screening in genetically heterogeneous mouse brains

Journal of Neuroinflammation
The central nervous system (CNS) represents a uniquely immune-privileged environment, with inflammatory responses involving several resident CNS-specific cell types.
Monica Xiong, Lisa A. Miosge, Carolina Correa-Ospina, Claudia M. Y. Yan, Tiffany Cripps, Stefan Bauernfried, Yuanyuan Wang, Maggie Crow, Lucy X. Morris, T. Daniel Andrews, Andrew Trujillo, Mitchell G. Rezzonico, Yuxin Liang, Qixin Bei, Zora Modrusan, Kimberly L. Stark, Tracy J. Yuen, Brad A. Friedman, Jesse E. Hanson, Edward M. Bertram, Christopher J. Bohlen   +20 more
doaj   +1 more source

Lipid metabolism as a marker for glioma aggressiveness. [PDF]

Biosci Rep
Ribas HT, Ribas GT, Paixão de Santana-Filho A, Jungles AG, Mesaros C, Guizelini D, Martinez GR, Trombetta-Lima M, Sassaki GL, Winnischofer SMB.   +9 more
europepmc   +1 more source

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source