Niemann-Pick disease type C-presenting as persistent neonatal
Por um escritor misterioso
Last updated 06 agosto 2024
This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive. Neimann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by inherited deficiency of acid sphingomyelinase enzyme or its transport which leads to deposition of sphingomylin and cholesterol in the lysosomes of reticuloendothelial system. It is characterized by failure to thrive, hepatospleenomeagaly and neurodegenerative changes. There are four subgroups of neimann pick disease, type A, B, C and D. Here authors are reporting a case of 5 months old female child presenting with persistent jaundice since neonatal period, progressive abdominal distention and failure to thrive. On examination patient had significant abdominal distension with moderate hepatosplenomegaly. On laboratory evaluation child diagnosed to have NPD type C. This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive.
Niemann Pick Disease - an overview
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study, Orphanet Journal of Rare Diseases
Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Lipid trafficking defects in Niemann-Pick type C disease
IJMS, Free Full-Text
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
Niemann-Pick disease type C
Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
PDF) A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Niemann-Pick disease type C
Adenosine A2A receptor stimulation restores cell functions and differentiation in Niemann-Pick type C-like oligodendrocytes
Recomendado para você
-
Niemann-Pick disease type C: Video & Anatomy06 agosto 2024
-
Niemann-Pick Type C « Niemann-Pick Children's Fund, Inc06 agosto 2024
-
Revista de Pediatria SOPERJ06 agosto 2024
-
Doença de Niemann-Pick06 agosto 2024
-
Doença de Niemann-Pick tipo A: mancha vermelho-cereja e regressão06 agosto 2024
-
Radiografía de tórax en un paciente con enfermedad de Niemann Pick06 agosto 2024
-
Enfermedad de Niemann-Pick tipo C: desde una colestasis neonatal06 agosto 2024
-
Proposed diagnostic algorithm for patients with suspected Niemann06 agosto 2024
-
Niemann-Pick tipo C: entenda uma das doenças que causa demência06 agosto 2024
-
Novo tratamento de doença que incha órgãos dá esperança a menina06 agosto 2024
você pode gostar
-
Featured RU Pokémon: Moltres - Smogon University06 agosto 2024
-
Assistir Benriya Saitou-san, Isekai ni Iku Episodio 3 Online06 agosto 2024
-
Material Didático –06 agosto 2024
-
desenho de alienígena fofo com OVNI flutuante 5054900 Vetor no Vecteezy06 agosto 2024
-
Exceptional Pokémon-GX for Your Collection06 agosto 2024
-
Mikakunin de Shinkoukei Episode 01, By Anime Series06 agosto 2024
-
Aerofólio Chevrolet Corsa Hatch G2 2002 a 2012 sem Leds Preto Original Tgpoli 03288 - TG POLI - Aerofólio - Magazine Luiza06 agosto 2024
-
Planeta da Dublagem - Universo 11 Dragon Ball Super Direção: Welligton Lima / Wendel Bezerra Tradução: Marcelo Del Grecco #planetadadublagem #anime #dragonballsuper #dublagem #sãopaulo #unidub #jiren #toppo06 agosto 2024
-
50 Pcs Dunlop Guitar Picks Electric Guitar Pick Part Accessories 606 agosto 2024
-
Dwayne Johnson Fought to Bring Henry Cavill's Superman Back06 agosto 2024