163 related articles for article (PubMed ID: 1527987)
1. Persistent hypermethioninaemia with dominant inheritance.
Blom HJ; Davidson AJ; Finkelstein JD; Luder AS; Bernardini I; Martin JJ; Tangerman A; Trijbels JM; Mudd SH; Goodman SI
J Inherit Metab Dis; 1992; 15(2):188-97. PubMed ID: 1527987
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18500573
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 12705496
[TBL] [Abstract][Full Text] [Related]
4. 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; 530(1):104-8. PubMed ID: 23973726
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 23993429
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.
Nagao M; Oyanagi K
Acta Paediatr Jpn; 1997 Oct; 39(5):601-6. PubMed ID: 9363660
[TBL] [Abstract][Full Text] [Related]
7. Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J; Santamaría E; Chien YH; Hwu WL; Korman SH; Faghfoury H; Schulze A; Hoganson GE; Stabler SP; Allen RH; Wagner C; Mudd SH; Corrales FJ
Mol Genet Metab; 2010; 101(2-3):172-7. PubMed ID: 20675163
[TBL] [Abstract][Full Text] [Related]
8. Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency.
Stabler SP; Steegborn C; Wahl MC; Oliveriusova J; Kraus JP; Allen RH; Wagner C; Mudd SH
Metabolism; 2002 Aug; 51(8):981-8. PubMed ID: 12145770
[TBL] [Abstract][Full Text] [Related]
9. Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):3-32. PubMed ID: 21308989
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Chou JY
Pharmacol Ther; 2000 Jan; 85(1):1-9. PubMed ID: 10674710
[TBL] [Abstract][Full Text] [Related]
11. Intermittent hypermethioninaemia associated with normal hepatic methionine adenosyltransferase activity: report of a case.
Jhaveri BM; Buist NR; Gaull GE; Tallan HH
J Inherit Metab Dis; 1982; 5(2):101-5. PubMed ID: 6820418
[TBL] [Abstract][Full Text] [Related]
12. A new type of hypermethioninemia in neonates.
Tsuchiyama A; Oyanagi K; Nakata F; Uetsuji N; Tsugawa S; Nakao T; Mori M
Tohoku J Exp Med; 1982 Nov; 138(3):281-8. PubMed ID: 7157356
[TBL] [Abstract][Full Text] [Related]
13. Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Mudd SH; Cerone R; Schiaffino MC; Fantasia AR; Minniti G; Caruso U; Lorini R; Watkins D; Matiaszuk N; Rosenblatt DS; Schwahn B; Rozen R; LeGros L; Kotb M; Capdevila A; Luka Z; Finkelstein JD; Tangerman A; Stabler SP; Allen RH; Wagner C
J Inherit Metab Dis; 2001 Aug; 24(4):448-64. PubMed ID: 11596649
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 22951388
[TBL] [Abstract][Full Text] [Related]
15. 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
J Pediatr; 1981 May; 98(5):734-41. PubMed ID: 7229751
[TBL] [Abstract][Full Text] [Related]
16. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.
Chamberlin ME; Ubagai T; Mudd SH; Levy HL; Chou JY
Am J Hum Genet; 1997 Mar; 60(3):540-6. PubMed ID: 9042912
[TBL] [Abstract][Full Text] [Related]
17. [Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency].
Gout JP; Serre JC; Dieterlen M; Antener I; Frappat P; Bost M; Beaudoing A
Arch Fr Pediatr; 1977 May; 34(5):416-23. PubMed ID: 889406
[TBL] [Abstract][Full Text] [Related]
18. Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
Gaull GE; Tallan HH
Science; 1974 Oct; 186(4158):59-60. PubMed ID: 4421454
[TBL] [Abstract][Full Text] [Related]
19. Isolated persistent hypermethioninemia.
Mudd SH; Levy HL; Tangerman A; Boujet C; Buist N; Davidson-Mundt A; Hudgins L; Oyanagi K; Nagao M; Wilson WG
Am J Hum Genet; 1995 Oct; 57(4):882-92. PubMed ID: 7573050
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 24231718
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
