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Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2017, Volume 122, Issue 1-2, pp. 135 - 142
Journal Article
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 8/2017, Volume 32, Issue 4, pp. 1081 - 1087
To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5′-phosphate oxidase (PNPO) deficiency. The clinical presentations... 
Biochemistry, general | Pyridoxal-5′-phosphate | Neurology | High prevalence mutation | Neurosciences | Biomedicine | Metabolic Diseases | Oncology | Pyridoxine | PNPO gene | GENE | 5'-PHOSPHATE | ENDOCRINOLOGY & METABOLISM | Pyridoxal-5 '-phosphate | PYRIDOXAMINE | PNPO DEFICIENCY | NEONATAL EPILEPTIC ENCEPHALOPATHY | NEUROSCIENCES | Brain - diagnostic imaging | Seizures - genetics | Brain Diseases, Metabolic - diagnostic imaging | Brain Diseases, Metabolic - genetics | Humans | Pyridoxaminephosphate Oxidase - genetics | Child, Preschool | Infant | Male | Seizures - diagnosis | Electroencephalography | Hypoxia-Ischemia, Brain - genetics | Seizures - diagnostic imaging | Magnetic Resonance Imaging | Pyridoxaminephosphate Oxidase - deficiency | Hypoxia-Ischemia, Brain - diagnosis | Phenotype | Arabidopsis Proteins | Hypoxia-Ischemia, Brain - diagnostic imaging | Intramolecular Lyases | Brain Diseases, Metabolic - diagnosis | DNA Mutational Analysis | Mutation | Infant, Newborn | Phosphates | Neuroimaging | Brain | Topiramate | Nuclear magnetic resonance--NMR | Epilepsy | Oxidase | Frameshift mutation | Amino acids | Normality | Gestation | Blood | Delay | Encephalopathy | Genetic analysis | Genotypes | Seizures | Seizing | Firing pattern | Abnormalities | EEG | Valproic acid | Metabolism | Patients | Screening | Magnetic resonance imaging | Psychomotor performance | Twins
Journal Article
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2014, Volume 82, Issue 16, pp. 1425 - 1433
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 94, Issue 4, pp. 431 - 434
Journal Article
Journal of Inherited Metabolic Disease, ISSN 1573-2665, 12/2010, Volume 33, Issue S3, pp. 25 - 33
We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Hypophosphatasia - enzymology | Seizures - genetics | Vitamin B 6 Deficiency - enzymology | Humans | Alkaline Phosphatase - metabolism | Seizures - drug therapy | Male | Vitamin B 6 Deficiency - diagnosis | Hypoxia-Ischemia, Brain - genetics | Hypophosphatasia - diagnosis | Brain Diseases, Metabolic - diagnosis | Fatal Outcome | Pyridoxal Phosphate - deficiency | Female | Brain Diseases, Metabolic - enzymology | Infant, Newborn | Hypophosphatasia - genetics | Seizures - enzymology | Genetic Predisposition to Disease | Alkaline Phosphatase - genetics | Vitamin B 6 Deficiency - genetics | Brain Diseases, Metabolic - genetics | Vitamin B Complex - therapeutic use | Hypoxia-Ischemia, Brain - drug therapy | Pyridoxaminephosphate Oxidase - genetics | Anticonvulsants - therapeutic use | Seizures - diagnosis | Treatment Outcome | Hypoxia-Ischemia, Brain - enzymology | Brain Diseases, Metabolic - drug therapy | Hypophosphatasia - complications | Pyridoxaminephosphate Oxidase - deficiency | Hypoxia-Ischemia, Brain - diagnosis | Phenotype | Biogenic Monoamines - metabolism | Hypophosphatasia - drug therapy | Mutation | Vitamin B 6 Deficiency - drug therapy | Phosphates | Infants (Newborn) | Physiological aspects | Amino acids
Journal Article