相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Sacha Ferdinandusse et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Pyridoxal 5′-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report
M. Veeravigrom et al.
GENETICS AND MOLECULAR RESEARCH (2015)
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia
Sarar Mohamed et al.
PEDIATRICS AND NEONATOLOGY (2015)
A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency
Chun-Yen Lin et al.
JOURNAL OF CHILD NEUROLOGY (2015)
L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families
Mahesh Kamate et al.
INDIAN JOURNAL OF PEDIATRICS (2014)
The Many Faces of Glut1 Deficiency Syndrome
Michal Tzadok et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Manifestations and treatment of epilepsy in children with neurometabolic disorders: A series from Jordan
Amira Masri et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2014)
L-2-Hydroxyglutaric Aciduria: A Case Report
Nebojsa J. Jovic et al.
SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO (2014)
Vitamin B12 absorption: Mammalian physiology and acquired and inherited disorders
Renata Kozyraki et al.
BIOCHIMIE (2013)
Metabolic epilepsy: An update
Laura Papetti et al.
BRAIN & DEVELOPMENT (2013)
Early diagnosis of pyridoxine-dependent epilepsy: Video-EEG monitoring and biochemical and genetic investigation
Dorothee Vile et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy
Gabor Zsurka et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2013)
Presentation of adult mitochondrial epilepsy
Josef Finsterer et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2013)
Genetics and molecular basis of human peroxisome biogenesis disorders
Hans R. Waterham et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes
Amanda W. Pong et al.
EPILEPSIA (2012)
Mutation Analysis of Indian Patients with Urea Cycle Defects
Neerja Gupta et al.
INDIAN PEDIATRICS (2012)
Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
Marion B. Coulter-Mackie et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials
Clara D. M. van Karnebeek et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Eyelid Myoclonia With Absence Seizures in a Child With L-2 Hydroxyglutaric Aciduria: Findings of Magnetic Resonance Imaging
Ahmet Mete et al.
PEDIATRIC NEUROLOGY (2012)
Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
Saul A. Mullen et al.
ARCHIVES OF NEUROLOGY (2011)
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism
Phillip L. Pearl et al.
BRAIN & DEVELOPMENT (2011)
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome
Yasushi Ito et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
The etiologic classification of epilepsy
Simon D. Shorvon
EPILEPSIA (2011)
Novel mutations in pyridoxine-dependent epilepsy
A. Millet et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)
Ohtahara Syndrome With Biotinidase Deficiency
Pratibha Singhi et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
Anne T. Berg et al.
EPILEPSIA (2010)
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
Paul P. Van Veldhoven
JOURNAL OF LIPID RESEARCH (2010)
Glutaric aciduria type 1 presenting with epilepsy
Verity M. Mcclelland et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2009)
L-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability
A. Larnaout et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism
Morad Khayat et al.
MOLECULAR GENETICS AND METABOLISM (2008)
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency
Angeles Ruiz et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: A case report
Vembu Periasamy et al.
MEDICAL PRINCIPLES AND PRACTICE (2008)
Epilepsy in Inherited Metabolic Disorders
Juan M. Pascual et al.
NEUROLOGIST (2008)
Paroxysmal movement disorders in GLUT1 deficiency syndrome
G. Zorzi et al.
NEUROLOGY (2008)
Optimizing therapy of seizures in patients with renal or hepatic dysfunction
Glenda Lacerda et al.
NEUROLOGY (2006)
L-2-hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters
S. M. Goffette et al.
EUROPEAN JOURNAL OF NEUROLOGY (2006)
L-2-hydroxyglutaric aciduria -: Clinical, neuroimaging, and neuropathological findings
M Seijo-Martinez et al.
ARCHIVES OF NEUROLOGY (2005)
Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage
O Teksam et al.
JOURNAL OF CHILD NEUROLOGY (2005)
Co-occurrence of seizure and chorea in a patient with nonketotic hyperglycemia
SJ Chung et al.
EUROPEAN NEUROLOGY (2005)
Pyridoxine-dependent seizures: Magnetic resonance spectroscopy findings
A Alkan et al.
JOURNAL OF CHILD NEUROLOGY (2004)
Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
V Leuzzi et al.
NEUROLOGY (2000)
D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy
O Eeg-Olofsson et al.
JOURNAL OF CHILD NEUROLOGY (2000)
分享论文
