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Barbara Plecko

Showing results (11-20 of 113) with videos related to

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Journal of Inherited Metabolic Disease|February 16, 2019
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiencyLisa M Crowther, Déborah Mathis, Martin Poms, et al.
The Lancet. Neurology|June 20, 2014
Occasional seizures, epilepsy, and inborn errors of metabolismOlivier Dulac, Barbara Plecko, Svetlana Gataullina, et al.
Journal of Inherited Metabolic Disease|April 23, 2020
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsiesDéborah Mathis, Karin Beese, Carmen Rüegg, et al.
Fetal Diagnosis and Therapy|September 27, 2017
Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal VentriculomegalyAlice Winkler, Sandra Tölle, Giancarlo Natalucci, et al.
Neuropediatrics|February 6, 2018
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected OffspringsRangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, et al.
Neuropediatrics|December 28, 2022
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP DeficiencyJudith Kalser, Fabienne Giuliano, Maria Peralta, et al.
Journal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
JIMD Reports|June 14, 2016
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan DiseaseMatthias Lauber, Barbara Plecko, Miriam Pfiffner, et al.
The Pediatric Infectious Disease Journal|September 27, 2013
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantationLucia Abela, Sandra P Toelle, Annette Hackenberg, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 22, 2014
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiencySandra P Toelle, David Wille, Bernhard Schmitt, et al.
Pageof 12

Showing results (11-20 of 113) with videos related to

Sort By:
Pageof 12
Journal of Inherited Metabolic Disease|February 16, 2019
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiencyLisa M Crowther, Déborah Mathis, Martin Poms, et al.
The Lancet. Neurology|June 20, 2014
Occasional seizures, epilepsy, and inborn errors of metabolismOlivier Dulac, Barbara Plecko, Svetlana Gataullina, et al.
Journal of Inherited Metabolic Disease|April 23, 2020
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsiesDéborah Mathis, Karin Beese, Carmen Rüegg, et al.
Fetal Diagnosis and Therapy|September 27, 2017
Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal VentriculomegalyAlice Winkler, Sandra Tölle, Giancarlo Natalucci, et al.
Neuropediatrics|February 6, 2018
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected OffspringsRangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, et al.
Neuropediatrics|December 28, 2022
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP DeficiencyJudith Kalser, Fabienne Giuliano, Maria Peralta, et al.
Journal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
JIMD Reports|June 14, 2016
The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan DiseaseMatthias Lauber, Barbara Plecko, Miriam Pfiffner, et al.
The Pediatric Infectious Disease Journal|September 27, 2013
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantationLucia Abela, Sandra P Toelle, Annette Hackenberg, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 22, 2014
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiencySandra P Toelle, David Wille, Bernhard Schmitt, et al.
Pageof 12