530 related articles for article (PubMed ID: 23954310)
61. Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.
Weisfeld-Adams JD; McCourt EA; Diaz GA; Oliver SC
Mol Genet Metab; 2015 Apr; 114(4):537-46. PubMed ID: 25742969
[TBL] [Abstract][Full Text] [Related]
62. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.
De Bie I; Nizard SD; Mitchell GA
Prenat Diagn; 2009 Mar; 29(3):266-70. PubMed ID: 19248038
[TBL] [Abstract][Full Text] [Related]
63. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY; Yang YL; Chang YC; Chiang SH; Lin SP; Han LS; Qi Y; Hsiao KJ; Liu TT
J Hum Genet; 2010 Sep; 55(9):621-6. PubMed ID: 20631720
[TBL] [Abstract][Full Text] [Related]
64. Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Gupta A; Kabra M; Gupta N
Indian J Pediatr; 2021 Dec; 88(12):1244-1246. PubMed ID: 34510336
[TBL] [Abstract][Full Text] [Related]
65. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP; Anastasio N; Liu J; Coelho D; Suormala T; Stucki M; Loewy AD; Gurd S; Grundberg E; Morel CF; Watkins D; Baumgartner MR; Pastinen T; Rosenblatt DS; Fowler B
Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
[TBL] [Abstract][Full Text] [Related]
66. Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.
Wen LY; Guo YK; Shi XQ
BMC Pediatr; 2020 May; 20(1):243. PubMed ID: 32443968
[TBL] [Abstract][Full Text] [Related]
67. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
Rossi A; Cerone R; Biancheri R; Gatti R; Schiaffino MC; Fonda C; Zammarchi E; Tortori-Donati P
AJNR Am J Neuroradiol; 2001 Mar; 22(3):554-63. PubMed ID: 11237984
[TBL] [Abstract][Full Text] [Related]
68. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
Tang H; Hao H; Tang SH; Chen X; Liu F; Cha QB; Li YQ; Li HJ; Sun L; Yu M; Xiao X; Zhou TH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):62-5. PubMed ID: 19199254
[TBL] [Abstract][Full Text] [Related]
69. Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Bonafede L; Ficicioglu CH; Serrano L; Han G; Morgan JI; Mills MD; Forbes BJ; Davidson SL; Binenbaum G; Kaplan PB; Nichols CW; Verloo P; Leroy BP; Maguire AM; Aleman TS
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):7875-87. PubMed ID: 26658511
[TBL] [Abstract][Full Text] [Related]
70. The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Wood WD; Elmaghrabi A; Gotway G; Wolf MTF
Pediatr Nephrol; 2022 Jun; 37(6):1415-1418. PubMed ID: 34854955
[TBL] [Abstract][Full Text] [Related]
71. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC; Morel CF; Scharer G; Yang M; Lerner-Ellis JP; Rosenblatt DS; Thomas JA
Am J Med Genet A; 2007 Oct; 143A(20):2430-4. PubMed ID: 17853453
[TBL] [Abstract][Full Text] [Related]
72. Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
Grünert SC; Fowler B; Superti-Furga A; Sass JO; Schwab KO
Brain Dev; 2011 May; 33(5):432-6. PubMed ID: 20926213
[TBL] [Abstract][Full Text] [Related]
73. Abnormal chondrocyte intercalation in a zebrafish model of
Paz D; Pinales BE; Castellanos BS; Perez I; Gil CB; Madrigal LJ; Reyes-Nava NG; Castro VL; Sloan JL; Quintana AM
bioRxiv; 2023 Jan; ():. PubMed ID: 36711998
[TBL] [Abstract][Full Text] [Related]
74. Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
Liu J; Peng Y; Zhou N; Liu X; Meng Q; Xu H; Zhao S
Orphanet J Rare Dis; 2017 Mar; 12(1):58. PubMed ID: 28327205
[TBL] [Abstract][Full Text] [Related]
75. [Combined methylmalonic acidemia and homocystinuria; a case report].
Jiménez Varo I; Bueno Delgado M; Dios Fuentes E; Delgado Pecellin C; González Meneses A; Soto Moreno A; Venegas Moreno E
Nutr Hosp; 2015 Apr; 31(4):1885-8. PubMed ID: 25795986
[TBL] [Abstract][Full Text] [Related]
76. Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
Hao Q; Jiang B; Zhao Y; Hu Z
BMC Nephrol; 2024 Jan; 25(1):13. PubMed ID: 38178022
[TBL] [Abstract][Full Text] [Related]
77. Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S; Mei S; Liu N; Kong X
BMC Med Genet; 2018 Aug; 19(1):154. PubMed ID: 30157807
[TBL] [Abstract][Full Text] [Related]
78. Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Nguyen MG; Tronick L; Modirian F; Mardach R; Besterman AD
Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35105663
[TBL] [Abstract][Full Text] [Related]
79. Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
Chen M; Zhuang J; Yang J; Wang D; Yang Q
Medicine (Baltimore); 2017 Oct; 96(43):e8284. PubMed ID: 29068997
[TBL] [Abstract][Full Text] [Related]
80. Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.
Ma X; Zhang Y; Yang Y; Liu X; Yang Z; Bao X; Qin J; Wu X
Brain Dev; 2011 Oct; 33(9):790-5. PubMed ID: 21764232
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
