315 related articles for article (PubMed ID: 25795986)
21. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Carrillo-Carrasco N; Venditti CP
J Inherit Metab Dis; 2012 Jan; 35(1):103-14. PubMed ID: 21748408
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
Gaillard MC; Matthieu JM; Borruat FX
Klin Monbl Augenheilkd; 2008 May; 225(5):491-4. PubMed ID: 18454408
[TBL] [Abstract][Full Text] [Related]
24. Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
Schuh S; Rosenblatt DS; Cooper BA; Schroeder ML; Bishop AJ; Seargeant LE; Haworth JC
N Engl J Med; 1984 Mar; 310(11):686-90. PubMed ID: 6700644
[TBL] [Abstract][Full Text] [Related]
25. CblC/D defect combined with haemodynamically highly relevant VSD.
Tomaske M; Bosk A; Heinemann MK; Sieverding L; Baumgartner ER; Fowler B; Trefz FK
J Inherit Metab Dis; 2001 Aug; 24(4):511-2. PubMed ID: 11596656
[TBL] [Abstract][Full Text] [Related]
26. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N; Chandler RJ; Venditti CP
J Inherit Metab Dis; 2012 Jan; 35(1):91-102. PubMed ID: 21748409
[TBL] [Abstract][Full Text] [Related]
27. High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
Profitlich LE; Kirmse B; Wasserstein MP; Diaz GA; Srivastava S
Mol Genet Metab; 2009 Dec; 98(4):344-8. PubMed ID: 19767224
[TBL] [Abstract][Full Text] [Related]
28. Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Cerone R; Schiaffino MC; Caruso U; Lupino S; Gatti R
J Inherit Metab Dis; 1999 May; 22(3):247-50. PubMed ID: 10384379
[No Abstract] [Full Text] [Related]
29. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L; Brox-Torrecilla N; Romero I; Motilla M; Serrano-Moreno C; Miguélez M; Cuerda C
Orphanet J Rare Dis; 2024 Jan; 19(1):20. PubMed ID: 38245797
[TBL] [Abstract][Full Text] [Related]
30. Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Robb RM; Dowton SB; Fulton AB; Levy HL
Am J Ophthalmol; 1984 Jun; 97(6):691-6. PubMed ID: 6731535
[TBL] [Abstract][Full Text] [Related]
31. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Chang JT; Chen YY; Liu TT; Liu MY; Chiu PC
Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.
Augoustides-Savvopoulou P; Mylonas I; Sewell AC; Rosenblatt DS
J Inherit Metab Dis; 1999 Aug; 22(6):756-8. PubMed ID: 10472537
[No Abstract] [Full Text] [Related]
34. Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.
Mitchell GA; Watkins D; Melançon SB; Rosenblatt DS; Geoffroy G; Orquin J; Homsy MB; Dallaire L
J Pediatr; 1986 Mar; 108(3):410-5. PubMed ID: 3950820
[TBL] [Abstract][Full Text] [Related]
35. Intracellular processing of vitamin B
Hannibal L; Jacobsen DW
Vitam Horm; 2022; 119():275-298. PubMed ID: 35337623
[TBL] [Abstract][Full Text] [Related]
36. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Weisfeld-Adams JD; Bender HA; Miley-Åkerstedt A; Frempong T; Schrager NL; Patel K; Naidich TP; Stein V; Spat J; Towns S; Wasserstein MP; Peter I; Frank Y; Diaz GA
Mol Genet Metab; 2013 Nov; 110(3):241-7. PubMed ID: 23954310
[TBL] [Abstract][Full Text] [Related]
37. Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D; Suormala T; Stucki M; Lerner-Ellis JP; Rosenblatt DS; Newbold RF; Baumgartner MR; Fowler B
N Engl J Med; 2008 Apr; 358(14):1454-64. PubMed ID: 18385497
[TBL] [Abstract][Full Text] [Related]
38. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
Francis PJ; Calver DM; Barnfield P; Turner C; Dalton RN; Champion MP
Eur J Pediatr; 2004 Jul; 163(7):420-1. PubMed ID: 15221473
[No Abstract] [Full Text] [Related]
39. Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Chen T; Liang L; Zhang H; Ye J; Qiu W; Xiao B; Zhu H; Wang L; Xu F; Gong Z; Gu X; Han L
Orphanet J Rare Dis; 2021 Mar; 16(1):125. PubMed ID: 33691766
[TBL] [Abstract][Full Text] [Related]
40. Optic atrophy in association with cobalamin C (cblC) disease.
Patton N; Beatty S; Lloyd IC; Wraith JE
Ophthalmic Genet; 2000 Sep; 21(3):151-4. PubMed ID: 11035547
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
