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Items: 1 to 20 of 95

1.

Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.

Nagao M, Tanaka T, Furujo M.

Mol Genet Metab. 2013 Dec;110(4):460-4. doi: 10.1016/j.ymgme.2013.10.013. Epub 2013 Oct 31.

PMID:
24231718
2.

Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.

Furujo M, Kinoshita M, Nagao M, Kubo T.

Mol Genet Metab. 2012 Nov;107(3):253-6. doi: 10.1016/j.ymgme.2012.08.002. Epub 2012 Aug 11. Review.

PMID:
22951388
3.

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

Couce ML, Bóveda MD, Castiñeiras DE, Corrales FJ, Mora MI, Fraga JM, Mudd SH.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S233-9. doi: 10.1007/s10545-008-0811-3. Epub 2008 May 20.

PMID:
18500573
4.

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

Chamberlin ME, Ubagai T, Mudd SH, Wilson WG, Leonard JV, Chou JY.

J Clin Invest. 1996 Aug 15;98(4):1021-7.

5.

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY.

Am J Hum Genet. 2000 Feb;66(2):347-55.

6.

S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.

Furujo M, Kinoshita M, Nagao M, Kubo T.

Mol Genet Metab. 2012 Mar;105(3):516-8. doi: 10.1016/j.ymgme.2011.11.192. Epub 2011 Dec 2.

PMID:
22178350
7.

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

Couce ML, Bóveda MD, García-Jimémez C, Balmaseda E, Vives I, Castiñeiras DE, Fernández-Marmiesse A, Fraga JM, Mudd SH, Corrales FJ.

Mol Genet Metab. 2013 Nov;110(3):218-21. doi: 10.1016/j.ymgme.2013.08.003. Epub 2013 Aug 14. Erratum in: Mol Genet Metab. 2015 Mar;114(3):486.

PMID:
23993429
8.
9.

Spectrum of hypermethioninemia in neonatal screening.

Chien YH, Chiang SC, Huang A, Hwu WL.

Early Hum Dev. 2005 Jun;81(6):529-33. Epub 2004 Dec 19.

PMID:
15935930
10.

Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction.

Hirabayashi K, Shiohara M, Yamada K, Sueki A, Ide Y, Takeuchi K, Hagimoto R, Kinoshita T, Yabuhara A, Mudd SH, Koike K.

Gene. 2013 Nov 1;530(1):104-8. doi: 10.1016/j.gene.2013.08.025. Epub 2013 Aug 23.

PMID:
23973726
11.

Molecular genetics of hepatic methionine adenosyltransferase deficiency.

Chou JY.

Pharmacol Ther. 2000 Jan;85(1):1-9. Review.

PMID:
10674710
12.

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY.

J Clin Invest. 1995 Oct;96(4):1943-7.

13.

Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity.

Pérez Mato I, Sanchez del Pino MM, Chamberlin ME, Mudd SH, Mato JM, Corrales FJ.

J Biol Chem. 2001 Apr 27;276(17):13803-9. Epub 2001 Jan 30.

14.

Hypermethioninemias of genetic and non-genetic origin: A review.

Mudd SH.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9. Review.

PMID:
21308989
15.

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.

Kim SZ, Santamaria E, Jeong TE, Levy HL, Mato JM, Corrales FJ, Mudd SH.

J Inherit Metab Dis. 2002 Dec;25(8):661-71.

PMID:
12705496
16.

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA.

Am J Med Genet. 1998 Feb 3;75(4):395-400.

PMID:
9482646
17.

Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

Nagao M, Oyanagi K.

Acta Paediatr Jpn. 1997 Oct;39(5):601-6.

PMID:
9363660
18.

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.

Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.

19.

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

Linnebank M, Lagler F, Muntau AC, Röschinger W, Olgemöller B, Fowler B, Koch HG.

J Inherit Metab Dis. 2005;28(6):1167-8.

PMID:
16435220
20.

Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.

Gahl WA, Finkelstein JD, Mullen KD, Bernardini I, Martin JJ, Backlund P, Ishak KG, Hoofnagle JH, Mudd SH.

Am J Hum Genet. 1987 Jan;40(1):39-49.

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