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

Introdução: A doença de Niemann-Pick é uma doença genética autossômica recessiva caracterizada pela mutação no gene da esfingomielina fosfodiesterase-1 (SMPD1). Neste relato, o objetivo é apresentar o caso de uma paciente diagnosticada com a doença de Niemann-Pick tipo B. Relato de caso: Paciente do...

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Bibliographic Details
Published in:	Hematology, Transfusion and Cell Therapy
Main Authors:	LO Falcão, RDA Soares, FAAES Junior, NC Conrrado
Format:	Article
Language:	English
Published:	Elsevier 2024-10-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S2531137924021953

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