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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2011, Volume 34, Issue 2, pp. 345 - 355
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 12/2011, Volume 159, Issue 6, pp. 932 - 932
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 12/2011, Volume 159, Issue 6, p. 932
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 12/2011, Volume 159, Issue 6, p. 932
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e57148
Neonatal seizures can be refractory to conventional anticonvulsants, and this may in part be due to a developmental increase in expression of the neuronal... 
HIPPOCAMPUS | APOPTOTIC NEURODEGENERATION | PHARMACOKINETICS | CRITICALLY ILL INFANTS | MULTIDISCIPLINARY SCIENCES | NA-K-2CL COTRANSPORTER NKCC1 | STATUS EPILEPTICUS | GABA | IMMATURE BRAIN | ANTIEPILEPTIC DRUGS | DEVELOPING BRAIN | Sodium Potassium Chloride Symporter Inhibitors - pharmacology | Seizures - drug therapy | Anticonvulsants - administration & dosage | Male | Seizures - metabolism | Electroencephalography | Anticonvulsants - pharmacology | CA1 Region, Hippocampal - drug effects | Brain - metabolism | Seizures - physiopathology | Phenobarbital - administration & dosage | Behavior, Animal - drug effects | CA1 Region, Hippocampal - metabolism | Neurons - metabolism | Cell Death - drug effects | Drug Therapy, Combination | Neurons - drug effects | Sodium Potassium Chloride Symporter Inhibitors - administration & dosage | Animals, Newborn | Solute Carrier Family 12, Member 2 - metabolism | Phenobarbital - pharmacokinetics | Rats | Bumetanide - pharmacokinetics | Hypoxia - complications | Symporters - metabolism | Brain - drug effects | Drug Synergism | Evoked Potentials - drug effects | Animals | Seizures - etiology | Bumetanide - administration & dosage | Brain | Phenobarbital | Seizures (Medicine) | Central nervous system depressants | Neonates | Neurosciences | γ-Aminobutyric acid A receptors | Epilepsy | Brain slice preparation | Clinical trials | Receptors | Convulsions & seizures | Developmental stages | Chlorides | Encephalopathy | Rodents | Diuretics | Bumetanide | Drug dosages | Seizures | Seizing | Medical research | Chloride transport | Mass spectroscopy | Metabolism | Neurology | Anticonvulsants | Hypoxia | Laboratory animals | Mass spectrometry | Hippocampus | Apoptosis
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2017, Volume 12, Issue C, pp. 1 - 1
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Kidney International, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1214 - 1224
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Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 368 - 376
GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate... 
LC-MS/MS | GALT deficiency | Clinical variant galactosemia | Enzyme activity | Long-term complications | Classic galactosemia
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Current Opinion in Clinical Nutrition and Metabolic Care, ISSN 1363-1950, 07/2015, Volume 18, Issue 4, pp. 422 - 427
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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2011, Volume 34, Issue 2, pp. 555 - 555
Journal Article