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1
Molecular genetics of maple syrup urine disease in Brazilian patients
Molecular genetics of maple syrup urine disease in Brazilian patients
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Molecular genetics of maple syrup urine disease in Brazilian patients

José Simon Camelo Júnior A. V. B Margutti; I. V. D Schwartz; Wilson Araújo da Silva Júnior; Annual Symposium of Society for the Study of Inborn Errors of Metabolism (SSIEM) (2015 Lyon)

Journal of Inherited Metabolic Disease Dordrecht v. 38, suppl. 1, p. S162-S163, res. P-259, 2015

Dordrecht 2015

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2740485 Estantes Deslizantes )(Acessar)

2
Galactosaemia in a brazilian population high incidence and cost-benefit analysis
Galactosaemia in a brazilian population high incidence and cost-benefit analysis
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Artigo 		Adicionar ao Meu Espaço

Galactosaemia in a brazilian population high incidence and cost-benefit analysis

José Simon Camelo Júnior Maria Inez Machado Fernandes; Léa Maria Zanini Maciel; Carlos Alberto Scrideli; Jair Licio Ferreira Santos; Alceu Salles Camargo Junior; Claudia Souza Passador; Priscilla Carvalho Leite; Diana Ruffato Resende; L. de Oliviera Souza; Roberto Giugliani; Salim Moyses Jorge

Journal of Inherited Metabolic Disease Dordrecht on-line, 2009

Dordrecht 2009

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1769344 )(Acessar)

3
Genotypic profile of Brazilian patients with classic galactosemia and study of the genotype-phenotype correlation
Genotypic profile of Brazilian patients with classic galactosemia and study of the genotype-phenotype correlation
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Genotypic profile of Brazilian patients with classic galactosemia and study of the genotype-phenotype correlation

Jose Simon Camelo Junior D. F Garcia; M Turcato; Greice Andreotti de Molfetta; A. A Marques; C. F. M Souza; G Porta; C. E Steiner; Wilson Araújo da Silva Júnior; Annual Symposium of Society for the Study of Inborn Errors of Metabolism (SSIEM) (2015 Lyon)

Journal of Inherited Metabolic Disease Dordrecht v. 38, suppl. 1, p. S182-S183, res. P-314, 2015

Dordrecht 2015

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2740491 Estantes Deslizantes )(Acessar)

4
Galactosaemia in a brazilian population high incidence and cost-benefit analysis
Galactosaemia in a brazilian population high incidence and cost-benefit analysis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Galactosaemia in a brazilian population high incidence and cost-benefit analysis

José Simon Camelo Júnior Maria Inez Machado Fernandes; Léa Maria Zanini Maciel; Carlos Alberto Scrideli; Jair Licio Ferreira Santos; Alceu Salles Camargo Junior; Claudia Souza Passador; Priscilla Carvalho Leite; Diana Ruffato Resende; L. de Oliviera Souza; Roberto Giugliani; Salim Moyses Jorge

Journal of Inherited Metabolic Disease Dordrecht on-line, 2009

Dordrecht 2009

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1769344 )(Acessar)

5
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

Braunlin, E. ; Rosenfeld, H. ; Kampmann, C. ; Johnson, J. ; Beck, M. ; Giugliani, R. ; Guffon, N. ; Ketteridge, D. ; Sá Miranda, C. M. ; Scarpa, M. ; Schwartz, I. V. ; Leão Teles, E. ; Wraith, J. E. ; Barrios, P. ; Dias da Silva, E. ; Kurio, G. ; Richardson, M. ; Gildengorin, G. ; Hopwood, J. J. ; Imperiale, M. ; Schatz, A. ; Decker, C. ; Harmatz, P.

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.385-394 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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6
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
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Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

Leung, Kit‐Yi ; De Castro, Sandra C. P. ; Santos, Chloe ; Savery, Dawn ; Prunty, Helen ; Gold‐Diaz, Diana ; Bennett, Stuart ; Heales, Simon ; Copp, Andrew J. ; Greene, Nicholas D. E.

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1186-1198 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Schwantje, Marit ; Ebberink, Merel S. ; Doolaard, Mirjam ; Ruiter, Jos P. N. ; Fuchs, Sabine A. ; Darin, Niklas ; Hedberg‐Oldfors, Carola ; Régal, Luc ; Donker Kaat, Laura ; Huidekoper, Hidde H. ; Olpin, Simon ; Cole, Duncan ; Moat, Stuart J. ; Visser, Gepke ; Ferdinandusse, Sacha

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.819-831 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
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Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

Langford-Smith, Kia Jane ; Mercer, Jean ; Petty, June ; Tylee, Karen ; Church, Heather ; Roberts, Jane ; Moss, Gill ; Jones, Simon ; Wynn, Rob ; Wraith, J. Ed ; Bigger, Brian W.

Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.499-508 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Olpin, S. E. ; Clark, S. ; Andresen, B. S. ; Bischoff, C. ; Olsen, R. K. J. ; Gregersen, N. ; Chakrapani, A. ; Downing, M. ; Manning, N. J. ; Sharrard, M. ; Bonham, J. R. ; Muntoni, F. ; Turnbull, D. N. ; Pourfarzam, M.

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.533-544 [Periódico revisado por pares]

Dordrecht: Kluwer Academic Publishers

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