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Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Patient: Male, 11-month-old Final Diagnosis: Niemann-Pick disease type A Symptoms: Hepatosplenomegaly • failure to thrive • neurodegenerative disorder Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic OBJECTIVE: Rare disease BACKGROUND: Niemann-Pick disease (NPD) type A is a...

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Detalles Bibliográficos
Autores principales:	Kavčič, Alja, Homan, Matjaž, Živanović, Milanka, Debeljak, Maruša, Butenko, Tita, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Bertok, Sara, Battelino, Tadej, Groselj, Urh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	International Scientific Literature, Inc. 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644563/ https://www.ncbi.nlm.nih.gov/pubmed/36333862 http://dx.doi.org/10.12659/AJCR.937220

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