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Molecular Genetics and Metabolism
|
July 10, 2021
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22]
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Molecular Genetics and Metabolism
|
April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
JIMD Reports
|
March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Psychological Medicine
|
November 4, 2022
Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
Lisa A Pan, Anna Maria Segreti, Joseph Wrobleski, et al.
Journal of Inherited Metabolic Disease
|
January 22, 2019
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
Michael F Wempe, Amit Kumar, Vijay Kumar, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, et al.
Plos Pathogens
|
March 13, 2015
Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria: association with disease severity
Matthew P Rubach, Jackson Mukemba, Salvatore Florence, et al.
Journal of Neuropathology and Experimental Neurology
|
January 16, 2014
Serotonin metabolites in the cerebrospinal fluid in sudden infant death syndrome
Ingvar J Rognum, Hoa Tran, Elisabeth A Haas, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
August 21, 2007
Clinical trial to evaluate omega-3 fatty acids and alternate day prednisone in patients with IgA nephropathy: report from the Southwest Pediatric Nephrology Study Group
Ronald J Hogg, Jeannette Lee, Nancy Nardelli, et al.
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of 7
Search research articles
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Showing results (41-50 of 65) with videos related to
Sort By:
Page
of 7
Molecular Genetics and Metabolism
|
July 10, 2021
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22]
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Molecular Genetics and Metabolism
|
April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
JIMD Reports
|
March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Psychological Medicine
|
November 4, 2022
Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
Lisa A Pan, Anna Maria Segreti, Joseph Wrobleski, et al.
Journal of Inherited Metabolic Disease
|
January 22, 2019
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
Michael F Wempe, Amit Kumar, Vijay Kumar, et al.
Orphanet Journal of Rare Diseases
|
March 12, 2015
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, et al.
Plos Pathogens
|
March 13, 2015
Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria: association with disease severity
Matthew P Rubach, Jackson Mukemba, Salvatore Florence, et al.
Journal of Neuropathology and Experimental Neurology
|
January 16, 2014
Serotonin metabolites in the cerebrospinal fluid in sudden infant death syndrome
Ingvar J Rognum, Hoa Tran, Elisabeth A Haas, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
August 21, 2007
Clinical trial to evaluate omega-3 fatty acids and alternate day prednisone in patients with IgA nephropathy: report from the Southwest Pediatric Nephrology Study Group
Ronald J Hogg, Jeannette Lee, Nancy Nardelli, et al.
Page
of 7