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The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 19, 2009
Vitamin B6 dependent seizures
Barbara Plecko, Sylvia Stöckler
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 19, 2009
Metabolic epilepsies: approaches to a diagnostic challenge
Sylvia Stöckler-Ipsiroglu, Barbara Plecko
European Journal of Pediatrics
|
November 25, 2003
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies
Dorothea Möslinger, Adolf Mühl, Terttu Suormala, et al.
Acta Biochimica Polonica
|
December 31, 2004
Biochemical and clinical characteristics of creatine deficiency syndromes
Jolanta Sykut-Cegielska, Wanda Gradowska, Saadet Mercimek-Mahmutoglu, et al.
Pediatric Neurology
|
July 10, 2003
Infantile sialic acid storage disease and protein-losing gastroenteropathy
Lieselotte Kirchner, Susanne Kircher, Ulrike Salzer-Muhar, et al.
Pediatric Research
|
March 29, 2002
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test
Chike Item, Brian P Hagerty, Adolf Mühl, et al.
European Journal of Pediatrics
|
May 25, 2002
Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes
Ali Fatemi, Chike Item, Sylvia Stöckler-Ipsiroglu, et al.
Wiener Klinische Wochenschrift
|
September 15, 2005
Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background
Osman S Ipsiroglu, Marion Herle, Elisabeth Spoula, et al.
Blood
|
June 19, 2002
Nondisjunction of chromosomes leading to hyperdiploid childhood B-cell precursor acute lymphoblastic leukemia is an early event during leukemogenesis
E Renate Panzer-Grümayer, Karin Fasching, Simon Panzer, et al.
Molecular Genetics and Metabolism
|
December 7, 2002
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
Roberta Battini, Vincenzo Leuzzi, Carla Carducci, et al.
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Search research articles
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Showing results (1-10 of 18) with videos related to
Sort By:
Page
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The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 19, 2009
Vitamin B6 dependent seizures
Barbara Plecko, Sylvia Stöckler
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
September 19, 2009
Metabolic epilepsies: approaches to a diagnostic challenge
Sylvia Stöckler-Ipsiroglu, Barbara Plecko
European Journal of Pediatrics
|
November 25, 2003
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies
Dorothea Möslinger, Adolf Mühl, Terttu Suormala, et al.
Acta Biochimica Polonica
|
December 31, 2004
Biochemical and clinical characteristics of creatine deficiency syndromes
Jolanta Sykut-Cegielska, Wanda Gradowska, Saadet Mercimek-Mahmutoglu, et al.
Pediatric Neurology
|
July 10, 2003
Infantile sialic acid storage disease and protein-losing gastroenteropathy
Lieselotte Kirchner, Susanne Kircher, Ulrike Salzer-Muhar, et al.
Pediatric Research
|
March 29, 2002
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test
Chike Item, Brian P Hagerty, Adolf Mühl, et al.
European Journal of Pediatrics
|
May 25, 2002
Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes
Ali Fatemi, Chike Item, Sylvia Stöckler-Ipsiroglu, et al.
Wiener Klinische Wochenschrift
|
September 15, 2005
Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background
Osman S Ipsiroglu, Marion Herle, Elisabeth Spoula, et al.
Blood
|
June 19, 2002
Nondisjunction of chromosomes leading to hyperdiploid childhood B-cell precursor acute lymphoblastic leukemia is an early event during leukemogenesis
E Renate Panzer-Grümayer, Karin Fasching, Simon Panzer, et al.
Molecular Genetics and Metabolism
|
December 7, 2002
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
Roberta Battini, Vincenzo Leuzzi, Carla Carducci, et al.
Page
of 2