Results 11 to 20 of about 26,055 (351)
Clinical Pathology, 2022 Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib +1 more
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A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency [PDF]
Romanian Journal of Pediatrics, 2022 AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness.
Sebastian Romeo Pintilie +6 more
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Methylmalonic Acidemia- A Rare Inborn Error of Metabolism [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age ...
Charusheela Sujit Korday +4 more
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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Nature Communications, 2022 Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse
Tiffany Chern +16 more
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Pediatric Liver Transplantation: Then and Now [PDF]
, 2020 This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT +4 more
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JIMD Reports, 2021 Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis ...
José A. Paz +9 more
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Frontiers in Pediatrics, 2022 Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion.
Mariangela Martino +3 more
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Global Pediatric Health, 2022 A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect.
Carla Brown MD +4 more
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Indications for pediatric liver transplantation [PDF]
, 1987 Two hundred fifty pediatric (
Andreas G. Tzakis +21 more
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Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby
Asian Journal of Medical Sciences, 2013 Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
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