Inborn errors of metabolism in infancy: a guide to diagnosis.
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Suggested guidelines for the diagnosis and management of urea cycle disordersThe cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunctionBiomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity?Progress along developmental tracks for electronic health records implementation in the United StatesInborn errors of metabolism: Review and data from a tertiary care center.Neurometabolic diseases of childhood.Newborn infant with lethargy, poor feeding, dehydration, hypothermia, hyperammonemia, neutropenia, and thrombocytopenia.Automatic sampling and analysis of organics and biomolecules by capillary action-supported contactless atmospheric pressure ionization mass spectrometry.Mouse models for disorders of mitochondrial fatty acid beta-oxidation.Diminished hepatic gluconeogenesis via defects in tricarboxylic acid cycle flux in peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1alpha)-deficient mice.A case of transient hyperammonemia in the newborn transient neonatal hyperammonemia.Galactosaemia: an unusual cause of chronic bilirubin encephalopathy.N-acetylcysteine prevents spatial memory impairment induced by chronic early postnatal glutaric acid and lipopolysaccharide in rat pups.Coma query cause.Partial rescue of retinal function in chronically hypoglycemic miceDiagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria.Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.Plasma Ammonia Levels in Newborns with Asphyxia.Hyperammonemia encephalopathy: an important cause of neurological deterioration following chemotherapy.Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients).Urinary amino acid analysis: a comparison of iTRAQ-LC-MS/MS, GC-MS, and amino acid analyzerAn insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.Neonatal neuroimaging findings in inborn errors of metabolism.Long-chain polyunsaturated fatty acids in inborn errors of metabolism.Bioanalytical LC separation techniques for quantitative analysis of free amino acids in human plasma.Growth failure in children: a symptom or a disease?Management of neonatal cholestasis: consensus statement of the Pediatric Gastroenterology Chapter of Indian Academy of Pediatrics.GALK inhibitors for classic galactosemia.Inborn errors of metabolism underlying primary immunodeficiencies.Clinical therapeutics for phenylketonuria.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.Wernicke's encephalopathy in exclusive breastfed infants.How to assess hemodynamic status in very preterm newborns in the first week of life?Multifactorial Effects on Different Types of Brain Cells Contribute to Ammonia Toxicity.Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.Management and investigation of neonatal encephalopathy: 2017 update.Perioperative anesthetic management of children having Inborn errors of metabolismEarly and severe indirect hyperbilirubinemia as a manifestation of galactosemia.
P2860
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P2860
Inborn errors of metabolism in infancy: a guide to diagnosis.
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Inborn errors of metabolism in infancy: a guide to diagnosis.
@ast
Inborn errors of metabolism in infancy: a guide to diagnosis.
@en
Inborn errors of metabolism in infancy: a guide to diagnosis.
@nl
type
label
Inborn errors of metabolism in infancy: a guide to diagnosis.
@ast
Inborn errors of metabolism in infancy: a guide to diagnosis.
@en
Inborn errors of metabolism in infancy: a guide to diagnosis.
@nl
prefLabel
Inborn errors of metabolism in infancy: a guide to diagnosis.
@ast
Inborn errors of metabolism in infancy: a guide to diagnosis.
@en
Inborn errors of metabolism in infancy: a guide to diagnosis.
@nl
P356
P1433
P1476
Inborn errors of metabolism in infancy: a guide to diagnosis.
@en
P2093
P356
10.1542/PEDS.102.6.E69
P407
P577
1998-12-01T00:00:00Z