Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
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Descrição
The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to accumulation of unesterified cholesterol and glycosphingolipids within the late endosome/lysosome of all cells.
Genetics Screening and Testing - Breda Genetics srl
Book Of Abstracts – KVIV - International Conferences
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Breda Genetics srl - ITALY (@Breda_Genetics) / X
Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome, BMC Medical Genomics
Mitochondrial dysfunction in fibroblasts derived from patients with Niemann- Pick type C disease - ScienceDirect
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library
JCM, Free Full-Text
PDF) Toriello-Carey like phenotipe associated with a complex intrachromosomal rearrangements on 4q
Niemann-Pick disease: MedlinePlus Genetics
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
EMA-Data-Scratching-with-RSelenium/drug_df_EMA.csv at master · MiqG/EMA-Data-Scratching-with-RSelenium · GitHub
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