Renal replacement therapy in neonates with an inborn error of metabolism [PDF]
Korean Journal of Pediatrics, 2019 Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
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Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism [PDF]
Genes and Diseases, 2022 Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Brendan P. Norman +12 more
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Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]
Archives of Disease in Childhood, 1963 It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the sense in which Garrod (1923) used this term.
N. Carson +5 more
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Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia [PDF]
Frontiers in Pediatrics, 2021 Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism.Design: A study of two cases.Setting: Quaternary pediatric hospital (Saint Louis Children's ...
Christopher Markham +6 more
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Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. [PDF]
Crit Rev Oncog, 2013 Clinical observations spanning almost half a century have demonstrated a consistent association of type 1 Gaucher disease (GD1) and cancers. However, the cellular and molecular bases of the association are not understood.
Mistry PK +3 more
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Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults [PDF]
Annals of Clinical and Translational Neurology, 2020 D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement.
Sepideh Tabarestani +5 more
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β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine [PDF]
Magnetic Resonance in Medicine, 2001 In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, β‐ureidopropionase (UP) deficiency, are reported. 1D 1H‐NMR experiments were performed using a patient's urine.
Sytske H. Moolenaar +12 more
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CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
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Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [PDF]
J Inherit Metab Dis, 2020 Clayton PT.
europepmc +3 more sources
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [PDF]
Am J Hum Genet, 2011 Banka S +19 more
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