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Quoted phrase not found in phrase index: "Classic organic aciduria"
Page 1
Lessons from genetic disorders of branched-chain amino acid metabolism.
Chuang DT, Chuang JL, Wynn RM. Chuang DT, et al. J Nutr. 2006 Jan;136(1 Suppl):243S-9S. doi: 10.1093/jn/136.1.243S. J Nutr. 2006. PMID: 16365091 Free article. Review.
Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences. A metabolic block in the oxidative decarboxylation of BCAA caused by mutations in the mitochondrial branched-chain alpha-k …
Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical …
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M. Worthen HG, et al. Brain Dev. 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. Brain Dev. 1994. PMID: 7726385 Clinical Trial.
Therefore, the observations pertain to the genetic groups in the Arabian peninsula. Organic acidemias which primarily manifest with neurologic signs, such as 4-hydroxybutyric aciduria, infantile onset 3-methylglutaconic aciduria, and glutaric aciduria …
Therefore, the observations pertain to the genetic groups in the Arabian peninsula. Organic acidemias which primarily manifest with n …
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A. Valayannopoulos V, et al. Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Orphanet J Rare Dis. 2016. PMID: 27030250 Free PMC article. Clinical Trial.
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficien …
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organi …
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S. Suormala TM, et al. J Inherit Metab Dis. 1990;13(1):76-92. doi: 10.1007/BF01799335. J Inherit Metab Dis. 1990. PMID: 2109151
Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with classical biotinidase deficiency. Using a sensitive HPLC method for biotinidase in plasma (substrate: biocytin) the patients could be d …
Seventeen partially biotinidase-deficient patients detected by neonatal screening or family studies were compared with four patients with …
Rare presentation of a treatable disorder: glutaric aciduria type 1.
Badve MS, Bhuta S, Mcgill J. Badve MS, et al. N Z Med J. 2015 Feb 20;128(1409):61-4. N Z Med J. 2015. PMID: 25721963
In view of the clinical and radiologic findings suggestive of a leukodystrophy, she was investigated for the same. ...Testing for urinary organic acids is important when looking for treatable metabolic disorders (such as glutaric aciduria type I) in patients …
In view of the clinical and radiologic findings suggestive of a leukodystrophy, she was investigated for the same. ...Testing for uri …