Zobrazeno 1 - 10
of 53
pro vyhledávání: '"S. H. Mudd"'
Autor:
J.M. Fraga, Inmaculada Vives, María L. Couce, C. García-Jimémez, Daisy E. Castiñeiras, E. Balmaseda, Fernando J. Corrales, S. H. Mudd, Ana Fernández-Marmiesse, Bóveda
Publikováno v:
Molecular Genetics and Metabolism. 110:218-221
Persistent hypermethioninemia due to mutations in the MAT1A gene is often found during newborn screening (NBS) for homocystinuria due to cystathionine beta-synthase deficiency, however, outcomes and optimal management for these patients are not well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a316a6461972a2d57d124adf892d2837
https://doi.org/10.1016/j.ymgme.2013.08.003
https://doi.org/10.1016/j.ymgme.2013.08.003
Autor:
Neil R. M. Buist, Igor P. Pogribny, Andreas Schulze, S. H. Mudd, Ivo Barić, Sally P. Stabler, Steven H. Zeisel, Robert H. Allen, Conrad Wagner, Oliver Vugrek, B. Glenn
Publikováno v:
Journal of Inherited Metabolic Disease. 29:538-545
This paper reports the third proven human case of deficient S-adenosylhomocysteine (AdoHcy) hydrolase activity. The patient is similar to the only two previously reported cases with this disorder in having severe myopathy, developmental delay, elevat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a10596f37eb11ea95547d7aac38b48a
https://doi.org/10.1007/s10545-006-0240-0
https://doi.org/10.1007/s10545-006-0240-0
Publikováno v:
Journal of Clinical Investigation. 96:1943-1947
Methionine adenosyltransferase (MAT) is a key enzyme in transmethylation, transsulfuration, and the biosynthesis of polyamines. Genetic deficiency of alpha/beta-MAT causes isolated persistent hypermethioninemia and, in some cases, unusual breath odor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf2589d4cc1e94d0cc390b5b820c430
https://doi.org/10.1172/jci118240
https://doi.org/10.1172/jci118240
Autor:
Christopher G R Bowden, S H Mudd, P V Hayman, R P Martins, Martin Woodcock, Peter A Robertson
Publikováno v:
Bulletin of the African Bird Club. 2:31-38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb9707ff66715c56afc2ba23b2cebe6f
https://doi.org/10.5962/p.308879
https://doi.org/10.5962/p.308879
Publikováno v:
Lipids. 25:135-142
Two lines of evidence led us to reexamine the possibility that methylation of phosphoethanolamine and its partially methylated derivatives, in addition to methylation of the corresponding phosphatidyl derivatives, plays a role in mammalian phosphatid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c060f880fe922e5db8d32dde0332e931
https://doi.org/10.1007/bf02544327
https://doi.org/10.1007/bf02544327
Autor:
J.M. Fraga, Fernando J. Corrales, S. H. Mudd, Daisy E. Castiñeiras, María L. Couce, Bóveda, M.I. Mora
Publikováno v:
Journal of inherited metabolic disease. 31
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots. Between June 2000 and June 2007, 140 818 newborns were analysed, and six
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2102921875a063c326c27658d378baa0
https://pubmed.ncbi.nlm.nih.gov/18500573
https://pubmed.ncbi.nlm.nih.gov/18500573
Autor:
Mario Ćuk, Conrad Wagner, Oliver Vugrek, Vladimir Sarnavka, Igor P. Pogribny, Miljenka Maradin, S. H. Mudd, Sally P. Stabler, Ksenija Fumić, Robert H. Allen, Andreas Schulze, B. Glenn, Steven H. Zeisel, Ivo Barić, Leo Pažanin, Marko Radoš
S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger bro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d02a69b6cc89d771f3e5b12c1f0d05
https://www.bib.irb.hr/212646
https://www.bib.irb.hr/212646
Autor:
S. Karyda, Robert H. Allen, Conrad Wagner, S. H. Mudd, Sally P. Stabler, Zigmund Luka, P. Augoustides-Savvopoulou, Kalliopi Patsiaoura
Publikováno v:
Journal of inherited metabolic disease. 26(8)
We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4582e1eaae16069bdc35f3d497000a
https://pubmed.ncbi.nlm.nih.gov/14739680
https://pubmed.ncbi.nlm.nih.gov/14739680
Autor:
Sook Kim, Fernando J. Corrales, Harvey L. Levy, S. H. Mudd, José M. Mato, T. E. Jeong, Enrique Santamaría
Publikováno v:
Dadun. Depósito Académico Digital de la Universidad de Navarra
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Two Korean sisters, one detected during neonatal screening, the other ascertained at age 3 years during family screening, have persistent hypermethioninaemia without elevation of plasma tyrosine or severe liver disease. Plasma total homocysteine (tHc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0093f0918d7e5688ffd20387ea68b6a6
https://pubmed.ncbi.nlm.nih.gov/12705496
https://pubmed.ncbi.nlm.nih.gov/12705496
Autor:
Conrad Wagner, Albert Tangerman, Steven H. Zeisel, Harvey L. Levy, Robert H. Allen, S. H. Mudd, Sally P. Stabler
Publikováno v:
Journal of Inherited Metabolic Disease, 26, 5, pp. 443-58
Journal of Inherited Metabolic Disease, 26, 443-58
Journal of Inherited Metabolic Disease, 26, 443-58
Item does not contain fulltext Four pregnancies in a women with moderately severe deficiency of methionine adenosyltransferase I/III (MAT I/III) activity are reported. She is an apparent homozygote for a point mutation in MAT1A, the gene that encodes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369699fabc012cf754fe8efbf8cbd425
https://hdl.handle.net/2066/186354
https://hdl.handle.net/2066/186354