Results 21 to 30 of about 36,711 (394)
Biomedicines, 2021 Mitochondrial proteins carrying iron-sulfur (Fe-S) clusters are involved in essential cellular pathways such as oxidative phosphorylation, lipoic acid synthesis, and iron metabolism.
Elise Lebigot +2 more
doaj +1 more source
Isovaleric Acidemia as a Rare Cause for Bad Obstetric History [PDF]
Journal of Clinical and Diagnostic Research, 2021 Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels ...
Sailatha Ramanujam +3 more
doaj +1 more source
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. [PDF]
Proc Natl Acad Sci U S A, 2011 Pierce SB +11 more
europepmc +2 more sources
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Nature Communications, 2022 Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau +15 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
core +1 more source
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
doaj +1 more source