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10.1016/s0022-3476(94)70257-8 http://scihub22266oqcxt.onion/10.1016/s0022-3476(94)70257-8 8283379!ä!8283379 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr 1994 ; 124 (1): 79-86 Nephropedia Template TP {{tp|p=8283379|t=1994. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts |pdf=|usr=}}{{8283379}} gab.com Text A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts JO: J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=8283379 #FOAvip We describe four Italian male infants with a novel clinical phenotype characterized by orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, progressive pyramidal signs, mental retardation, and brain magnetic resonance imaging abnormalities. The first symptoms appeared after the termination of breast-feeding and introduction of formula feeding. Marked persistent 2-ethylmalonic aciduria was associated with abnormal excretion of C4-C5(n-butyryl-, isobutyryl-, isovaleryl-, and 2-methylbutyryl-)acylglycines and acylcarnitines and with intermittent lactic acidosis. Short- and branched-chain plasma acylcarnitine levels were also elevated. 2-Ethylmalonic aciduria is generally regarded as being indicative of a defect in fatty acid oxidation. Extensive studies of cultured fibroblasts failed to reveal such a defect. The observation of intermittent urinary excretion of 2-ethylhydracrylic acid pointed to involvement of the isoleucine R pathway in ethylmalonate biosynthesis. This hypothesis was tentatively corroborated by the biochemical responses to an oral isoleucine challenge in two patients. However, fibroblast studies showed normal oxidation rates of (14C)isoleucine (ul), indicating that this is not a defect of isoleucine oxidation expressed in skin fibroblasts. In one of two patients tested, cytochrome c oxidase activity was partially reduced (45%) in cultured fibroblasts. This unique clinical and biochemical phenotype identifies a new metabolic encephalopathy of yet undetermined cause. Twit Text FOAVip A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts ????J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=8283379 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=8283379 #FOAvip English Wikipedia <ref>{{Cite pmid|8283379}}</ref> A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts #MMPMID8283379 Burlina AB; Dionisi-Vici C; Bennett MJ; Gibson KM; Servidei S; Bertini E; Hale DE; Schmidt-Sommerfeld E; Sabetta G; Zacchello F; et al. J Pediatr 1994[Jan]; 124 (1): 79-86 PMID8283379show ga We describe four Italian male infants with a novel clinical phenotype characterized by orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, progressive pyramidal signs, mental retardation, and brain magnetic resonance imaging abnormalities. The first symptoms appeared after the termination of breast-feeding and introduction of formula feeding. Marked persistent 2-ethylmalonic aciduria was associated with abnormal excretion of C4-C5(n-butyryl-, isobutyryl-, isovaleryl-, and 2-methylbutyryl-)acylglycines and acylcarnitines and with intermittent lactic acidosis. Short- and branched-chain plasma acylcarnitine levels were also elevated. 2-Ethylmalonic aciduria is generally regarded as being indicative of a defect in fatty acid oxidation. Extensive studies of cultured fibroblasts failed to reveal such a defect. The observation of intermittent urinary excretion of 2-ethylhydracrylic acid pointed to involvement of the isoleucine R pathway in ethylmalonate biosynthesis. This hypothesis was tentatively corroborated by the biochemical responses to an oral isoleucine challenge in two patients. However, fibroblast studies showed normal oxidation rates of (14C)isoleucine (ul), indicating that this is not a defect of isoleucine oxidation expressed in skin fibroblasts. In one of two patients tested, cytochrome c oxidase activity was partially reduced (45%) in cultured fibroblasts. This unique clinical and biochemical phenotype identifies a new metabolic encephalopathy of yet undetermined cause. |*Cyanosis[MESH] |*Diarrhea[MESH] |*Purpura[MESH] |Acyl-CoA Dehydrogenase[MESH] |Brain/abnormalities[MESH] |Chronic Disease[MESH] |Fatty Acid Desaturases/metabolism[MESH] |Fatty Acids/*metabolism[MESH] |Fibroblasts/enzymology/metabolism[MESH] |Humans[MESH] |Infant[MESH] |Intellectual Disability[MESH] |Isoleucine/metabolism[MESH] |Male[MESH] |Malonates/*urine[MESH] |Oxidation-Reduction[MESH] |Paralysis[MESH]A new syndrome with ethylmalonic aciduria and normal fatty acid oxidat(epmc).pdf DeepDyve Pubget Overpricing