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Martin Smitka

Showing results (21-30 of 40) with videos related to

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Neuropediatrics|December 1, 2021
Clinical and Genetic Aspects of Juvenile Onset Pompe DiseaseJohanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndromeSvenja Alter, Alrun Hotz, Arne Jahn, et al.
Journal of Child Neurology|January 19, 2013
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experienceLena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, et al.
Cerebellum (London, England)|April 25, 2012
Macrocerebellum: significance and pathogenic considerationsAndrea Poretti, Volker Mall, Martin Smitka, et al.
JIMD Reports|January 29, 2015
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in GermanyAndreas Hahn, Susanne Praetorius, Nesrin Karabul, et al.
Neuromuscular Disorders : NMD|October 22, 2010
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotypeUluc Yis, Gökhan Uyanik, Pinar Bambul Heck, et al.
Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Annals of Neurology|March 31, 2015
Oligoclonal bands predict multiple sclerosis in children with optic neuritisNicole Heussinger, Evangelos Kontopantelis, Janina Gburek-Augustat, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Neuropediatrics|December 1, 2021
Clinical and Genetic Aspects of Juvenile Onset Pompe DiseaseJohanna Holzwarth, Nadja Minopoli, Charlotte Pfrimmer, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndromeSvenja Alter, Alrun Hotz, Arne Jahn, et al.
Journal of Child Neurology|January 19, 2013
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experienceLena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, et al.
Cerebellum (London, England)|April 25, 2012
Macrocerebellum: significance and pathogenic considerationsAndrea Poretti, Volker Mall, Martin Smitka, et al.
JIMD Reports|January 29, 2015
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in GermanyAndreas Hahn, Susanne Praetorius, Nesrin Karabul, et al.
Neuromuscular Disorders : NMD|October 22, 2010
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotypeUluc Yis, Gökhan Uyanik, Pinar Bambul Heck, et al.
Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Annals of Neurology|March 31, 2015
Oligoclonal bands predict multiple sclerosis in children with optic neuritisNicole Heussinger, Evangelos Kontopantelis, Janina Gburek-Augustat, et al.
Pageof 4