Výsledky vyhledávání - "T. Burlingame"

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Autor: Kaatje Meeuws, Cary O. Harding, Piero Rinaldo, T. Burlingame, Melanie B. Gillingham, Dietrich Matern, William E. Connor

Publikováno v: Molecular Genetics and Metabolism. 79:114-123

Current dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency consists of fasting avoidance, and limiting long-chain fatty acid (LCFA) intake. This study reports the relationship of dietary i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4f10d0c1fd0de84700515d8a8e07d5
https://doi.org/10.1016/s1096-7192(03)00073-8

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Maleylacetoacetate Isomerase (MAAI/GSTZ)-Deficient Mice Reveal a Glutathione-Dependent Nonenzymatic Bypass in Tyrosine Catabolism

Autor: José Manuel Fernández-Cañón, K. Michael Gibson, Manfred W. Baetscher, T. Burlingame, Milton J. Finegold, Markus Grompe

Publikováno v: Molecular and Cellular Biology. 22:4943-4951

In mammals, the catabolic pathway of phenylalanine and tyrosine is found in liver (hepatocytes) and kidney (proximal tubular cells). There are well-described human diseases associated with deficiencies of all enzymes in this pathway except for maleyl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7353c505c204f3041feeed8f20f4a50a
https://doi.org/10.1128/mcb.22.13.4943-4951.2002

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Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Autor: W. S. Guerand, Markus Grompe, T. Burlingame, Cornelis Jakobs, Henry Senephansiri, D. S. M. Schor, Teodoro Bottiglieri, Maneesh Gupta, Boris M. Hogema, K. M. Gibson, O. C. Snead, Wolfgang Froestl, H. Bartels

Publikováno v: Journal of Neurochemistry. 81:71-79

Metabolite profiling in succinate semialdehyde dehydrogenase (SSADH; Aldh5a1–/–) deficient mice previously revealed elevated γ-hydroxybutyrate (GHB) and total GABA in urine and total brain and liver extracts. In this study, we extend our metabol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::43c9b9319f5a95d3b66c02f7d88af0b7
https://doi.org/10.1046/j.1471-4159.2002.00784.x

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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol ?7-reductase activity in chorionic villi

Autor: G.S. Tint, Robert D. Steiner, Kevin P. Battaile, William E. Connor, Megumi Honda, Akira Honda, Don S. Lin, S. J. Hayflick, Gerald Salen, Sharon Ginat, K. M. Gibson, T. Burlingame, Leesa M. Linck

Publikováno v: Prenatal Diagnosis. 20:238-240

Smith–Lemli–Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::430f2047fba1fea6f3f691ea93e43414
https://doi.org/10.1002/(sici)1097-0223(200003)20:3<238::aid-pd792>3.0.co

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Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Autor: Melissa Taylor, Markus Grompe, Wolfgang Froestl, Maneesh Gupta, Cornelis Jakobs, Boris M. Hogema, Ramon Diaz-Arrastia, Teodoro Bottiglieri, O. Carter Snead, T. Burlingame, Henry Senephansiri, K. Michael Gibson, Ruud B.H. Schutgens

Publikováno v: Nature genetics. 29(2)

Succinate semialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GABA) degradation that manifests in humans as 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria. It is characterized by a non-specific ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710f116d52c167be77b0a0613f0a833d
https://pubmed.ncbi.nlm.nih.gov/11544478

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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi

Autor: L M, Linck, S J, Hayflick, D S, Lin, K P, Battaile, S, Ginat, T, Burlingame, K M, Gibson, M, Honda, A, Honda, G, Salen, G S, Tint, W E, Connor, R D, Steiner

Publikováno v: Prenatal diagnosis. 20(3)

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrochol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::40418e63a539039c7965adafce705bca
https://pubmed.ncbi.nlm.nih.gov/10719329

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2-Methylbutyryl-CoA dehydrogenase (2-MBCDase) deficiency: a new inborn error of L-isoleucine metabolism

Autor: Diane S. Roe, Piero Rinaldo, T Burlingame, M Sacks, R D Steiner, B Hogema, L Sweetman, Jerry Vockley, Ruud B.H. Schutgens, D Kiss, Leesa M. Linck, Charles R. Roe, P Pohowalla, C. Jakobs, K M Gibson, David S. Millington

Publikováno v: Genetics in Medicine. 2:71-72

With the exception of beta-kelothiolase (BKT) deficiency, there are no reported inborn errors of human metabolism specific to L-isoleucine degradation. EA presented at three days of age with lethargy, hypoglycemia and apnea. MRI demonstrated ischemic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da07678a73aee889e9c2803fe53b3ed0
https://doi.org/10.1097/00125817-200001000-00074

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Potential for clinical misdiagnosis of combined methylmalonic aciduria/homocysteinemia (MMA/HCYS) due to absence of acute metabolic derangement

Autor: R D Steine, H Senephansiri, T. Burlingame, Markus Grompe, Teodoro Bottiglieri, P Campbell, K. M. Gibson, J Debley

Publikováno v: Genetics in Medicine. 2:61-62

The cobalamin C (cbl C) complementation group of combined MMA/HCYS is the most common o f the inborn errors of vitamin B12 metabolism, affecting both methylmalonyl-CoA and homocysteine (Hcys) degradation. We have recently diagnosed 2 patients with th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4dd032a01d05f768121d5b0d051c873c
https://doi.org/10.1097/00125817-200001000-00048

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Prenatal diagnosis of Smith-Lemli-Opitz syndrome via an abnormal maternal serum screen

Autor: M B Swing, T. Burlingame, G Hirata, Robert D. Steiner, K. M. Gibson

Publikováno v: Genetics in Medicine. 1:63

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder which results from a defect in cholesterol biosynthesis. The finding of elevated levels of cholesterol precursors is diagnostic of SLO. There have been few reported cases of the pren

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f5fd4c4ca6c7bb1541ab6a94999f3b6
https://doi.org/10.1097/00125817-199901000-00090

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