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1981 1
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18 results

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Page 1
Isolated persistent hypermethioninemia.
Mudd SH, Levy HL, Tangerman A, Boujet C, Buist N, Davidson-Mundt A, Hudgins L, Oyanagi K, Nagao M, Wilson WG. Mudd SH, et al. Am J Hum Genet. 1995 Oct;57(4):882-92. Am J Hum Genet. 1995. PMID: 7573050 Free PMC article.
However, none showed the clinical findings or the extreme elevations of serum folate previously described in other patients with isolated hypermethioninemia considered not to have hepatic MAT deficiency. Patients ascertained on biochemical grounds had no neurological abnor …
However, none showed the clinical findings or the extreme elevations of serum folate previously described in other patients with isolated …
Ameliorative effect of tannic acid on hypermethioninemia-induced oxidative and nitrosative damage in rats: biochemical-based evidences in liver, kidney, brain, and serum.
de Moraes Meine B, Bona NP, Luduvico KP, de Souza Cardoso J, Spohr L, de Souza AÁ, Spanevello RM, Soares MSP, Stefanello FM. de Moraes Meine B, et al. Amino Acids. 2020 Dec;52(11-12):1545-1558. doi: 10.1007/s00726-020-02913-5. Epub 2020 Nov 13. Amino Acids. 2020. PMID: 33184691
We investigated the ability of tannic acid (TA) to prevent oxidative and nitrosative damage in the brain, liver, kidney, and serum of a rat model of acute hypermethioninemia. Young Wistar rats were divided into four groups: I (control), II (TA 30 mg/kg), III (methionine (M …
We investigated the ability of tannic acid (TA) to prevent oxidative and nitrosative damage in the brain, liver, kidney, and serum of a rat …
Spectrum of hypermethioninemia in neonatal screening.
Chien YH, Chiang SC, Huang A, Hwu WL. Chien YH, et al. Early Hum Dev. 2005 Jun;81(6):529-33. doi: 10.1016/j.earlhumdev.2004.11.005. Epub 2004 Dec 19. Early Hum Dev. 2005. PMID: 15935930
More than half of the 16 cases of isolated hypermethioninemia had mutations in the MAT1A gene, and four of the eight MAT1A mutations identified in this study have not been reported before. Therefore methionine adenosyltransferase deficiency is the most prevalent cause of i …
More than half of the 16 cases of isolated hypermethioninemia had mutations in the MAT1A gene, and four of the eight MAT1A mutations …
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individu …
MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the …
Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.
Chen WH, Hsieh SL, Hsu KP, Chen HP, Su XY, Tseng YJ, Chien YH, Hwu WL, Lai F. Chen WH, et al. J Med Internet Res. 2013 May 23;15(5):e98. doi: 10.2196/jmir.2495. J Med Internet Res. 2013. PMID: 23702487 Free PMC article.
METHODS: The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification …
METHODS: The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for …
Hypermethioninemia provokes oxidative damage and histological changes in liver of rats.
Stefanello FM, Matté C, Pederzolli CD, Kolling J, Mescka CP, Lamers ML, de Assis AM, Perry ML, dos Santos MF, Dutra-Filho CS, Wyse AT. Stefanello FM, et al. Biochimie. 2009 Aug;91(8):961-8. doi: 10.1016/j.biochi.2009.04.018. Epub 2009 May 7. Biochimie. 2009. PMID: 19426780
Hypermethioninemia increased synthesis and concentration of glycogen, besides histological studies showed morphological alterations and reduction in the glycogen/glycoprotein content in liver. ...These findings suggest that oxidative damage and histological changes caused …
Hypermethioninemia increased synthesis and concentration of glycogen, besides histological studies showed morphological alterations a …
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients.
Gaull GE, Tallan HH, Lonsdale D, Przyrembel H, Schaffner F, von Bassewitz DB. Gaull GE, et al. J Pediatr. 1981 May;98(5):734-41. doi: 10.1016/s0022-3476(81)80833-5. J Pediatr. 1981. PMID: 7229751
Four patients with hypermethioninemia were ascertained in neonatal mass metabolic screening programs. Hypermethioninemia has persisted in all cases. There were no other abnormalities in sulfur-amino acid concentrations, and routine serum chemical determinations, inc …
Four patients with hypermethioninemia were ascertained in neonatal mass metabolic screening programs. Hypermethioninemia has p …
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W, Yang J, Xue J, Mu W, Zhang X, Wu W, Xu M, Gong Y, Liu Y, Zhang Y, Xie X, Gu W, Bai J, Cram DS. Wang W, et al. BMC Med Genet. 2019 Jan 6;20(1):3. doi: 10.1186/s12881-018-0731-5. BMC Med Genet. 2019. PMID: 30612563 Free PMC article.
Prospective analysis of 211 bloodspots correctly identified the two true PKU samples, yielding positive and negative predictive values of 100%. Testing of 8 true positive MS MS samples correctly identified potentially pathogenic compound heterozygote genotypes in 2 cases o …
Prospective analysis of 211 bloodspots correctly identified the two true PKU samples, yielding positive and negative predictive value …
Familial hypermethioninemia partially responsive to dietary restriction.
Labrune P, Perignon JL, Rault M, Brunet C, Lutun H, Charpentier C, Saudubray JM, Odievre M. Labrune P, et al. J Pediatr. 1990 Aug;117(2 Pt 1):220-6. doi: 10.1016/s0022-3476(05)80533-5. J Pediatr. 1990. PMID: 2380820
Hypermethioninemia and absolute methionine intolerance were observed in three siblings. ...
Hypermethioninemia and absolute methionine intolerance were observed in three siblings. ...
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD, Wang L, Jhee KH, Singh RH, Elsas LJ 2nd. Kruger WD, et al. Hum Mutat. 2003 Dec;22(6):434-41. doi: 10.1002/humu.10290. Hum Mutat. 2003. PMID: 14635102
The T353M mutation, found exclusively in four African American patients, was associated with a B(6)-nonresponsive phenotype and detection by newborn screening for hypermethioninemia. The I278T mutation was found exclusively in Caucasian patients and was associated with a B …
The T353M mutation, found exclusively in four African American patients, was associated with a B(6)-nonresponsive phenotype and detection by …
18 results