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Academic Journal

Assessment of cellular cobalamin metabolism in Gaucher disease.

  • Authors : Basgalupp SP; Postgraduate Program in Medical Sciences, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center. Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.

  • Source: BMC Medical Genetics [BMC Med Genet] 2020 Jan 13; Vol. 21 (1), pp. 12. Date of Electronic Publication: 2020 Jan 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Academic Journal

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

  • Authors : Wilke MVMB; Postgraduate Program in Medical Sciences, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. .; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. .

Subjects: Gaucher Disease/Gaucher Disease/Gaucher Disease/*diagnosis ; Gaucher Disease/Gaucher Disease/Gaucher Disease/*physiopathology ; Parkinson Disease/Parkinson Disease/Parkinson Disease/*diagnosis

  • Source: Orphanet Journal Of Rare Diseases [Orphanet J Rare Dis] 2019 May 10; Vol. 14 (1), pp. 103. Date of Electronic Publication: 2019 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Academic Journal

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014).

  • Authors : de Bitencourt FH; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Schwartz IVD

  • Source: BMC Pediatrics [BMC Pediatr] 2019 Feb 08; Vol. 19 (1), pp. 52. Date of Electronic Publication: 2019 Feb 08.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium:

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Academic Journal

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.

  • Authors : Vanz AP; Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; van de Sande Lee J

Subjects: Quality of Life*/Quality of Life*/Quality of Life*/psychology; Osteogenesis Imperfecta/Osteogenesis Imperfecta/Osteogenesis Imperfecta/*physiopathology ; Osteogenesis Imperfecta/Osteogenesis Imperfecta/Osteogenesis Imperfecta/*psychology

  • Source: BMC Pediatrics [BMC Pediatr] 2018 Mar 02; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2018 Mar 02.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium:

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