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cystathioninemia相关文献:
Cystathioninemia: a benign genetic condition.
Scott CR, Dassell SW, Clark SH, Chiang-Teng C, Swedberg KR.
J Pediatr. 1970 Apr;76(4):571-7. doi: 10.1016/s0022-3476(70)80407-3.
PMID:5420794
Studies in cystathioninemia.
Berlow S.
Am J Dis Child. 1966 Aug;112(2):135-42. doi: 10.1001/archpedi.1966.02090110079007.
PMID:5947491
Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.
Akahoshi N, Kamata S, Kubota M, Hishiki T, Nagahata Y, Matsuura T, Yamazaki C, Yoshida Y, Yamada H, Ishizaki Y, Suematsu M, Kasahara T, Ishii I.
Am J Physiol Renal Physiol. 2014 Jun 15;306(12):F1462-76. doi: 10.1152/ajprenal.00623.2013. Epub 2014 Apr 23.
PMID:24761004
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.
Mudd SH, Levy HL, Abeles RH, Jennedy JP Jr.
Biochem Biophys Res Commun. 1969 Apr 10;35(1):121-6. doi: 10.1016/0006-291x(69)90491-4.
PMID:5779140
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.
Levy HL, Mudd SH, Schulman JD, Dreyfus PM, Abeles RH.
Am J Med. 1970 Mar;48(3):390-7. doi: 10.1016/0002-9343(70)90070-7.
PMID:5435651
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Ishii I, Akahoshi N, Yamada H, Nakano S, Izumi T, Suematsu M.
J Biol Chem. 2010 Aug 20;285(34):26358-68. doi: 10.1074/jbc.M110.147439. Epub 2010 Jun 21.
PMID:20566639
[Maple syrup urine disease and cystathioninemia].
Simma B, Sperl W, Berger H.
Padiatr Padol. 1989;24(1):69-75.
PMID:2497426
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.
McGill JJ, Mettler G, Rosenblatt DS, Scriver CR.
Am J Med Genet. 1990 May;36(1):45-52. doi: 10.1002/ajmg.1320360111.
PMID:2185635
Preeclampsia-Like Features and Partial Lactation Failure in Mice Lacking Cystathionine γ-Lyase-An Animal Model of Cystathioninuria.
Akahoshi N, Handa H, Takemoto R, Kamata S, Yoshida M, Onaka T, Ishii I.
Int J Mol Sci. 2019 Jul 17;20(14):3507. doi: 10.3390/ijms20143507.
PMID:31319489
Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications.
Vargas JE, Mudd SH, Waisbren SE, Levy HL.
Am J Obstet Gynecol. 1999 Sep;181(3):753-5. doi: 10.1016/s0002-9378(99)70525-9.
PMID:10486496
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