المؤلفون: Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy. alberto.burlina@unipd.it., Pereira D; Waters Technologies Brazil, São Paulo, Brazil.; Innovatox, São Paulo, Brazil., Silva C; Waters Technologies Brazil, São Paulo, Brazil., Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Lopes FF; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Netto ABO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Poletto E; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Bernardes TM; Hospital Infantil Sabará, São Paulo, Brazil., Carvalho GS; Hospital Regional de Caguatinga, Brasilia, Brazil., Sorte NB; HUPES, Salvador, Brazil., Ferreira FN; Private Clinic, São Paulo, Brazil., Perin N; Hospital Infantil Joana Gusmão, Florianópolis, Brazil., Clivati MR; Centro Clivati de Neurologia, Curitiba, Brazil., de Santana MTS; Clínica de Pediatria e Adolescentes, Salvador, Brazil., Lobos SFG; Hemocentro da Bahia, Salvador, Brazil., Leão EKEA; HUPES, Salvador, Brazil., Coutinho MP; Centro de Referência e Tratamento da Criança, Campos dos Goitacazes, Brazil., Pinos PV; Hajar Hospital, Tehran, Iran., Santos MLSF; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Penatti DA; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Lourenço CM; Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil.; Dasa, São Paulo, Brazil.; Casa dos Raros, Porto Alegre, Brazil.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 08; Vol. 17 (1), pp. 407. Date of Electronic Publication: 2022 Nov 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type A* , Niemann-Pick Diseases*, Infant, Newborn ; Humans ; Chromatography, Liquid/methods ; Tandem Mass Spectrometry/methods ; Sphingomyelin Phosphodiesterase

المؤلفون: Penatti DA; From the Division of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, Botucatu Medical School, Unesp-Sao Paulo State University, Botucatu, São Paulo, Brazil., Machado NC; From the Division of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, Botucatu Medical School, Unesp-Sao Paulo State University, Botucatu, São Paulo, Brazil., Carvalho MA; From the Division of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, Botucatu Medical School, Unesp-Sao Paulo State University, Botucatu, São Paulo, Brazil., Rodrigues MAM; Department of Pathology, Botucatu Medical School, Unesp-Sao Paulo State University, Botucatu, São Paulo, Brazil.

المصدر: JPGN reports [JPGN Rep] 2020 Dec 23; Vol. 2 (1), pp. e032. Date of Electronic Publication: 2020 Dec 23 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101773885 Publication Model: eCollection Cited Medium: Internet ISSN: 2691-171X (Electronic) Linking ISSN: 2691171X NLM ISO Abbreviation: JPGN Rep Subsets: PubMed not MEDLINE