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Showing results (551-560 of 575) with videos related to

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Molecular Genetics and Metabolism|October 16, 2013
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patientsA C Brusius-Facchin, I V D Schwartz, C Zimmer, et al.
Clinical Genetics|August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VIA C M M Azevedo, I V Schwartz, L Kalakun, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Genetics and Molecular Biology|April 2, 2014
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil NetworkAlícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriersI V D Schwartz, L L C Pinto, G Breda, et al.
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2007
A clinical study of 77 patients with mucopolysaccharidosis type IIIda V D Schwartz, Márcia G Ribeiro, João G Mota, et al.
Orphanet Journal of Rare Diseases|May 23, 2021
Mucopolysaccharidosis VII in Brazil: natural history and clinical findingsRoberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, et al.
Molecular Genetics and Metabolism|March 8, 2021
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey studyDafne D G Horovitz, Emília K E A Leão, Erlane M Ribeiro, et al.
Journal of Neurology|July 10, 2009
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsSueli M Oba-Shinjo, Roseli da Silva, Fernanda G Andrade, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Pageof 58

Showing results (551-560 of 575) with videos related to

Sort By:
Pageof 58
Molecular Genetics and Metabolism|October 16, 2013
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patientsA C Brusius-Facchin, I V D Schwartz, C Zimmer, et al.
Clinical Genetics|August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VIA C M M Azevedo, I V Schwartz, L Kalakun, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Genetics and Molecular Biology|April 2, 2014
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil NetworkAlícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriersI V D Schwartz, L L C Pinto, G Breda, et al.
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2007
A clinical study of 77 patients with mucopolysaccharidosis type IIIda V D Schwartz, Márcia G Ribeiro, João G Mota, et al.
Orphanet Journal of Rare Diseases|May 23, 2021
Mucopolysaccharidosis VII in Brazil: natural history and clinical findingsRoberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, et al.
Molecular Genetics and Metabolism|March 8, 2021
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey studyDafne D G Horovitz, Emília K E A Leão, Erlane M Ribeiro, et al.
Journal of Neurology|July 10, 2009
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutationsSueli M Oba-Shinjo, Roseli da Silva, Fernanda G Andrade, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Pageof 58