382 related articles for article (PubMed ID: 19199254)
61. Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
Haraguchi Y; Aparicio JM; Takiguchi M; Akaboshi I; Yoshino M; Mori M; Matsuda I
J Clin Invest; 1990 Jul; 86(1):347-50. PubMed ID: 2365823
[TBL] [Abstract][Full Text] [Related]
62. [Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma].
Li M; Zhang GL; Zhai JX; Wei L; Zhu XH; Dai XY; Yang LJ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Aug; 25(4):387-9. PubMed ID: 18683133
[TBL] [Abstract][Full Text] [Related]
63. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
[TBL] [Abstract][Full Text] [Related]
64. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
[TBL] [Abstract][Full Text] [Related]
65. [Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria].
Li M; Yang LJ; Zhu XH; Zhang HP; Dai XY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):446-8. PubMed ID: 17680540
[TBL] [Abstract][Full Text] [Related]
66. Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
Passantino R; Mangione MR; Ortore MG; Costa MA; Provenzano A; Amenitsch H; Sabbatella R; Alfano C; Martorana V; Vilasi S
Biochim Biophys Acta Proteins Proteom; 2022 Jun; 1870(6):140793. PubMed ID: 35618206
[TBL] [Abstract][Full Text] [Related]
67. Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.
Gan X; Guo Y; Shen J; Zhao Y; Zhang F; Yu C
Clin Lab; 2024 Feb; 70(2):. PubMed ID: 38345966
[TBL] [Abstract][Full Text] [Related]
68. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Paz D; Pinales BE; Castellanos BS; Perez I; Gil CB; Madrigal LJ; Reyes-Nava NG; Castro VL; Sloan JL; Quintana AM
Differentiation; 2023; 131():74-81. PubMed ID: 37167860
[TBL] [Abstract][Full Text] [Related]
69. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
Berger I; Shaag A; Anikster Y; Baumgartner ER; Bar-Meir M; Joseph A; Elpeleg ON
Mol Genet Metab; 2001 May; 73(1):107-10. PubMed ID: 11350191
[TBL] [Abstract][Full Text] [Related]
70. [Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Liu Y; Liu YP; Zhang Y; Song JQ; Zheng H; Dong H; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Li DX; Jin Y; Li MQ; Wang ZX; Yuan Y; Li HX; Qin J; Yang YL
Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):414-420. PubMed ID: 29886603
[No Abstract] [Full Text] [Related]
71. [Study on TR beta gene mutation in a thyroid hormone resistance syndrome family].
Liu JF; Shi BY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):423-6. PubMed ID: 16883531
[TBL] [Abstract][Full Text] [Related]
72. Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited.
Younessi D; Moseley K; Yano S
Ann Neurol; 2009 Apr; 65(4):481-2; author reply 482-3. PubMed ID: 19399869
[No Abstract] [Full Text] [Related]
73. Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T; Achilleos A; Tong X; Hill MC; Saltzman AB; Reineke LC; Chaudhury A; Dasgupta SK; Redhead Y; Watkins D; Neilson JR; Thiagarajan P; Green JBA; Malovannaya A; Martin JF; Rosenblatt DS; Poché RA
Nat Commun; 2022 Jan; 13(1):134. PubMed ID: 35013307
[TBL] [Abstract][Full Text] [Related]
74. [Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing].
Li L; Ma D; Sun Y; Zhang J; Wang Y; Jiang T; Xu Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):181-5. PubMed ID: 27060311
[TBL] [Abstract][Full Text] [Related]
75. [Peripheral nervous impairment in a patient with methylmalonic aciduria combined with hyperhomocysteinemia].
Ji TY; Zhang YH; Li FT; Qin J; Yang YL
Beijing Da Xue Xue Bao Yi Xue Ban; 2013 Apr; 45(2):303-6. PubMed ID: 23591356
[TBL] [Abstract][Full Text] [Related]
76. Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate.
Harding CO; Pillers DA; Steiner RD; Bottiglieri T; Rosenblatt DS; Debley J; Michael Gibson K
J Perinatol; 2003; 23(5):384-6. PubMed ID: 12847533
[TBL] [Abstract][Full Text] [Related]
77. [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
Cheng XH; Zheng F; Zhou X; Xiong CL; Ding J; Chen YM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):55-8. PubMed ID: 18247305
[TBL] [Abstract][Full Text] [Related]
78. Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
Hwang N; Jang JH; Cho EH; Choi R; Choi SJ; Park HD
Mol Genet Genomic Med; 2021 Nov; 9(11):e1838. PubMed ID: 34655177
[TBL] [Abstract][Full Text] [Related]
79. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC; Sloan JL; Scharer G; Brebner A; Quintana AM; Achilly NP; Manoli I; Coughlin CR; Geiger EA; Schneck U; Watkins D; Suormala T; Van Hove JL; Fowler B; Baumgartner MR; Rosenblatt DS; Venditti CP; Shaikh TH
Am J Hum Genet; 2013 Sep; 93(3):506-14. PubMed ID: 24011988
[TBL] [Abstract][Full Text] [Related]
80. [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
Pan YC; Liu Y; Wu WQ; Xie JS
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Oct; 18(10):1013-1018. PubMed ID: 27751223
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
