Zobrazeno 1 - 10
of 26
pro vyhledávání: '"E. Regula Baumgartner"'
Autor:
Jessie M. Cameron, Matthias R. Baumgartner, E. Regula Baumgartner, Neviana MacKay, Valeriy Levandovskiy, Brian H. Robinson, Jane B. L. Addis, Mary C. Maj
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 90:4101-4107
Context: Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect has never been established. Objective: The aim of this study was to identify the cause of the defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1beb473e6e294659088dbd398f28b55
https://doi.org/10.1210/jc.2005-0123
https://doi.org/10.1210/jc.2005-0123
Autor:
Stephanie Grunewald, Heidi Peters, E. Regula Baumgartner, Ron A. Wevers, Johan L.K. Van Hove, Rita Van Damme-Lombaerts, Jean-Pierre Fryns, Brian Fowler, Boudewijn Van Damme, Jozef Arnout
Publikováno v:
American Journal of Medical Genetics. 111:195-201
Two siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bade88985d16443729c8423387a0ba2
https://doi.org/10.1002/ajmg.10499
https://doi.org/10.1002/ajmg.10499
Autor:
E. Regula Baumgartner, Brian Fowler, Fatima Cruz, Terttu Suormala, Ulrich N. Wiesmann, Armin Wolf, Markus Daschner, Alain Limat
Publikováno v:
International Journal for Vitamin and Nutrition Research. 72:278-286
The validity of various transformed and untransformed CNS and skin-derived cell cultures as a model for studying effects of biotin deficiency was tested. In biotin-sufficient conditions (0.1–10 mumol/L) all cell types showed considerable activities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a3df401d77a7062a79540323c65286
https://doi.org/10.1024/0300-9831.72.4.278
https://doi.org/10.1024/0300-9831.72.4.278
Autor:
Gabriel Civallero, Carlos Quiroga Mayor, Catalina Depetris-Boldini, E. Regula Baumgartner, Terttu Suormala, Norberto Guelbert, Ana E. Paschini-Capra, Laura E. Laróvere, Raquel Dodelson de Kremer, Alexandra Latini
Publikováno v:
Metabolic Brain Disease. 17:13-18
We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4167b330885ad5070a38ca4816b8d177
https://doi.org/10.1023/a:1014096112916
https://doi.org/10.1023/a:1014096112916
Autor:
E. Regula Baumgartner, Barbara Baur
Publikováno v:
Brain Research. 858:348-355
The uptake of biotin and the closely related biocytin was characterized in primary cultures of calf brain microvessel endothelial (CBME) cells. Biotin uptake was found to be Na(+)-gradient dependent and independent of changes in the membrane potentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f110b6f510dbb30b338e9fc83caf027d
https://doi.org/10.1016/s0006-8993(00)01944-2
https://doi.org/10.1016/s0006-8993(00)01944-2
Autor:
E. Regula Baumgartner, Terttu Suormala
Publikováno v:
BioFactors. 10:287-290
Biotin is the cofactor of the 4 biotin-dependent carboxylases (propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, acetyl-CoA carboxylase), which play a key role in vitally important pathways in protein, lipid, and carb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc380fdcf014a9d2f74c5d48284667d
https://doi.org/10.1002/biof.5520100229
https://doi.org/10.1002/biof.5520100229
Autor:
Matthias R. Baumgartner, Terttu Suormala, Thomas Lempp, Beat Steinmann, Renate Siegenthaler, Brian Fowler, E. Regula Baumgartner
Isolated methylmalonic acidurias (MMA-urias) comprise a group of rare autosomal recessively inherited disorders characterised by accumulation of MMA in urine and other body fluids, resulting from deficient activity of the mitochondrial enzyme methylm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9de2c5d9b31b83c03acc3b90d8582e2
https://doi.org/10.5167/uzh-181040
https://doi.org/10.5167/uzh-181040
Autor:
E. Regula Baumgartner, Michael Myer, Denise M. Kirby, Thorsten Stanley, Brian A. Darlow, Glen Thomson, David R. Thorburn, Callum J. Wilson
Publikováno v:
The Journal of pediatrics. 147(1)
We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cce875ffcfd101803fbf1a3a8e15014
https://pubmed.ncbi.nlm.nih.gov/16027709
https://pubmed.ncbi.nlm.nih.gov/16027709
Publikováno v:
Developmental medicine and child neurology. 46(7)
Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bb2a7a665b49fa1eb8dea792b63f85
https://pubmed.ncbi.nlm.nih.gov/15230462
https://pubmed.ncbi.nlm.nih.gov/15230462
Autor:
David Valle, Terttu Suormala, Boris Gebhardt, Georg F. Hoffmann, M. Fernanda Dantas, Matthias R. Baumgartner, Cecilia Giunta, Dolores Friebel, Brian Fowler, Shlomo Almashanu, E. Regula Baumgartner
Publikováno v:
American journal of human genetics. 75(5)
Deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) results in elevated excretion of 3-methylcrotonylglycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA). MCC is a heteromeric mitochondrial enzyme comprising biotin-containing alpha subunits and sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f209a7de6a45fc5a76657c28232a3421
https://pubmed.ncbi.nlm.nih.gov/15359379
https://pubmed.ncbi.nlm.nih.gov/15359379