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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.

Autor: Bravo H; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil., Neto EC; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Schulte J; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Pereira J; CTN Diagnósticos, Av. Ipiranga 5000, Porto Alegre, RS 90610-000, Brazil., Filho CS; Intercientifica, Av. Ouro Fino, São José dos Campos, SP 12233-401, Brazil., Bittencourt F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Sebastião F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Bender F; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., de Magalhães APS; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Guidobono R; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Trapp FB; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Michelin-Tirelli K; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Souza CFM; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Rojas Málaga D; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil., Pasqualim G; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil.; Gene Therapy Center, Experimental Research Center, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Brusius-Facchin AC; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil., Giugliani R; Post-Graduate Program of Genetics and Molecular Biology, UFRGS, Av. Bento Gonçalves 9500, 91501-970 Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil.; Post-Graduate Program in Medical Sciences, UFRGS, Rua Ramiro Barcelos 2400, 90035-003 Porto Alegre, RS, Brazil.; Gene Therapy Center, Experimental Research Center, HCPA, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2017 Jul 04; Vol. 12, pp. 92-97. Date of Electronic Publication: 2017 Jul 04 (Print Publication: 2017).

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Akademický článek

Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.

Autor: da Rocha Siqueira TC; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil., de Souza CF; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil., Lompa P; Orthopedics and Traumatology Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil., Picarelli M; Hospital São Lucas, PUCRS, Porto Alegre, RS, Brazil., Scheibel I; Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil., Bender F; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil., Guidobono R; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil., Burin MG; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil., Giugliani R; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.; Department of Genetics, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.

Publikováno v: JIMD reports [JIMD Rep] 2016; Vol. 26, pp. 99-102. Date of Electronic Publication: 2015 Aug 28.

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Akademický článek

Analysis of selected steroid hormones in sea of Marmara sediment samples by LC-ESI/MS-MS.

Autor: Aysel, Esra¹ esraaysel@outlook.com, Yurdun, Turkan²

Publikováno v: Istanbul Journal of Pharmacy. Dec2023, Vol. 53 Issue 3, p329-340. 12p.

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Akademický článek

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

Autor: Kubaski F; Post Graduation Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil., Brusius-Facchin AC, Palhares HM, Balarin MA, Viapiana-Camelier M, Guidobono R, Burin MG, Giugliani R, Leistner-Segal S

Publikováno v: Gene [Gene] 2013 Mar 15; Vol. 517 (1), pp. 112-5. Date of Electronic Publication: 2013 Jan 11.

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