| 1 |
35337626 | Inherited defects of cobalamin metabolism. | 2022 |
2 |
| 2 |
35441136 | Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. | 2022 |
1 |
| 3 |
35631199 | Diagnostic and Therapeutic Perspectives Associated to Cobalamin-Dependent Metabolism and Transcobalamins' Synthesis in Solid Cancers. | 2022 May 14 |
2 |
| 4 |
32659443 | Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase. | 2021 Apr |
2 |
| 5 |
34796408 | Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. | 2021 Nov 18 |
1 |
| 6 |
32068834 | Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. | 2020 Jul 29 |
3 |
| 7 |
27858373 | Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient. | 2017 |
1 |
| 8 |
28572511 | Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. | 2017 Jul 14 |
2 |
| 9 |
26672496 | The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. | 2016 Feb |
1 |
| 10 |
27132595 | A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. | 2016 May 5 |
1 |
| 11 |
28536607 | Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. | 2016 |
1 |
| 12 |
25809485 | Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. | 2015 May 1 |
1 |
| 13 |
26483544 | Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. | 2015 Dec 4 |
2 |
| 14 |
24686805 | Methylmalonic acidaemia in pregnancy. | 2014 Mar 31 |
1 |
| 15 |
24865477 | Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. | 2014 Nov |
1 |
| 16 |
23608310 | Analysis of subcellular [57Co] cobalamin distribution in SH-SY5Y neurons and brain tissue. | 2013 Jul 15 |
3 |
| 17 |
24470095 | Cobalt: its role in health and disease. | 2013 |
1 |
| 18 |
24957894 | Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z. | 2013 Feb 18 |
2 |
| 19 |
22661206 | Role of vitamin B12 on methylmalonyl-CoA mutase activity. | 2012 Jun |
1 |
| 20 |
23141461 | Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. | 2012 Dec |
1 |
| 21 |
21551270 | Insights into the evolution of vitamin B12 auxotrophy from sequenced algal genomes. | 2011 Oct |
2 |
| 22 |
20876572 | Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. | 2010 Dec 3 |
1 |
| 23 |
16281286 | Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. | 2006 Jan |
1 |
| 24 |
16150626 | Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. | 2005 Sep-Oct |
2 |
| 25 |
15292234 | The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. | 2004 Oct 8 |
1 |
| 26 |
12514191 | Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. | 2003 Mar 14 |
1 |
| 27 |
12438653 | Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. | 2002 Nov 26 |
2 |
| 28 |
12471062 | Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. | 2002 Dec 15 |
1 |
| 29 |
11685586 | Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. | 2001 Nov |
1 |
| 30 |
10540863 | [Vitamin B12]. | 1999 Oct |
2 |
| 31 |
9554742 | Seven novel mutations in mut methylmalonic aciduria. | 1998 |
2 |
| 32 |
9685364 | Disruption of a regulatory system involving cobalamin distribution and function in a methionine-dependent human glioma cell line. | 1998 Aug 7 |
1 |
| 33 |
8875026 | Cobalamin. | 1996 |
1 |
| 34 |
9102141 | [A molecular study of methylmalonic aciduria: structure-function correlations]. | 1996 Oct |
2 |
| 35 |
7912889 | Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. | 1994 Jul |
2 |
| 36 |
8100234 | Cobalamin metabolism in cultured human chorionic villus cells. | 1993 Jul |
1 |
| 37 |
2387670 | Both valine and isoleucine supplementation delay the development of neurological impairment in vitamin B12 deficient bats. | 1990 |
1 |
| 38 |
2865895 | Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren. | 1985 Nov |
1 |
| 39 |
6131113 | Effect of a vitamin B-12-deficient diet on lipid and fatty acid composition of spinal cord myelin in the fruit bat. | 1983 Mar |
1 |
| 40 |
6135251 | N2O and urine methylmalonic acid in man. | 1983 Jul |
1 |
| 41 |
7074405 | Effect of nitrous oxide anaesthesia on homocystine excretion. | 1982 May |
1 |
| 42 |
36882 | Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts. | 1979 Feb |
1 |
| 43 |
43301 | Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. | 1979 |
2 |
| 44 |
1059104 | Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. | 1975 Aug |
1 |