Results 101 to 110 of about 2,017,541 (209)
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Background Mitochondrial DNA depletion syndrome 13 (MTDPS13) is an autosomal recessive disorder presenting in early infancy with encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Patient‐derived cells typically exhibit impaired mitochondrial oxidative phosphorylation and a marked reduction in mitochondrial DNA (mtDNA ...
Gabriele D’Amato +6 more
wiley +1 more source
, 1973 This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...
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Hyperamonemia in children. Study of 72 cases
Acta Pediátrica de México, 2014 Hyperammonemia (HA) is a metabolic emergency, and when not diagnosed and treated in a timely manner leads to severe neuro- logical damage and/ or death. HA may have multiple origins, but the EIM are one of the causes that should always be suspected.
Jiménez Pérez Mario +2 more
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atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its [PDF]
deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria, ” J Inherit Metab ...
Abnormal Mitochondria +3 more
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Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting [PDF]
, 2014 Disorders of the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other products. This results in encephalopathy, coma, and death if not recognized and treated rapidly.
Fabiano Pinheiro da Silva +1 more
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Tandem Mass Neonatal Screening in Taiwan—Report from One Center
Journal of the Formosan Medical Association, 2006 Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang +6 more
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Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at [PDF]
7. Feinstein JA, O'Brien K. “Acute metabolic decompensation in an adult patient with isovaleric academia, ” South Med J. 2003 May; 96(5): 500-3. 8. Fries, MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S.
Divry P, Dumoulin R, On G
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Folia Pharmacologica Japonica, 1989 The beneficial effect of LC-80 in the therapy for organic acidemias, especially propionic acidemia and methylmalonic acidemia, was compared with those of its optical isomers, d-carnitine chloride (d-isomer) and dl-carnitine chloride (dl-isomer) in rat liver mitochondria. LC-80 at concentrations of 5 and 10 mM did not inhibit the mitochondrial function,
S, Fujisawa +3 more
openaire +3 more sources
Clinical Manifestations of Organic Acidemia
Iranian Journal of Child Neurology, 2012 A clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis Diseases with OA Isovaleric and propionic acidemias, maple syrup
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مجله دانشکده پزشکی اصفهان, 2013 Organic acidurias (or organic acidemias) are a group of inherited metabolic disorders usually caused by loss or lack of the activity of one enzyme in the catabolic pathway of amino acids, fatty acids, carbohydrates, cholesterol, biogenic amines, nucleic ...
Morteza Pourfarzam, Bahara Barati
doaj