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MMADHC gene
Known as:
C2ORF25
, CL25022
, cblD
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This gene is involved in vitamin metabolism.
National Institutes of Health
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Related topics
Related topics
5 relations
GCFC2 gene
MMADHC wt Allele
Metabolism
Methylmalonic Aciduria and Homocystinuria, CblD Type
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency
Pembe Soylu Ustkoyuncu
,
M. Kendirci
,
F. Kardaş
,
Songul Gokay
,
H. Per
,
Ayşe Kaçar Bayram
Journal of pediatric hematology/oncology
2019
Corpus ID: 4602988
Background: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype…
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2019
2019
Cobalamin D Deficiency Identified Through Newborn Screening.
Aya Abu-El-Haija
,
Bryce A. Mendelsohn
,
+4 authors
R. Gallagher
JIMD Reports
2019
Corpus ID: 51956914
Cobalamin D deficiency (cblD) is one of the least common cobalamin metabolism disorders. It may result in isolated homocystinuria…
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2018
2018
A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family
Chao Wang
,
Yu-qin Zhang
,
+4 authors
Jianbo Shu
Chinese Medical Journal
2018
Corpus ID: 52984968
To the Editor: Vitamin B12 (cobalamin, Cbl) is essential for normal growth and development in humans. It can be converted into…
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2017
2017
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
A. R. R. Devi
,
S. Naushad
Clinical Biochemistry
2017
Corpus ID: 10254446
2017
2017
Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B 12 trafficking
S. Froese
,
J. Kopeć
,
+8 authors
W. Yue
2017
Corpus ID: 45555988
Conversion of vitamin B12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for…
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2013
2013
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
W. Mah
,
J. Deme
,
+5 authors
J. Coulton
Molecular Genetics and Metabolism
2013
Corpus ID: 25261186
2013
2013
Ruma Banerjee Carmen Gherasim , Michael Lofgren and Delivery , and Disorders of Cobalamin Road : Assimilation , 12 Navigating the
2013
Corpus ID: 207858357
2006
2006
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
E. Richard
,
L. Monteoliva
,
+4 authors
J. Albar
Journal of Proteome Research
2006
Corpus ID: 34018740
Isolated methylmalonic acidemia (MMA) is a rare metabolic disease due to the deficient activity of L-methylmalonyl-CoA mutase…
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1998
1998
Cobalamin metabolism in methionine-dependent human tumour and leukemia cell lines.
D. Watkins
Clinical and investigative medicine. Medecine…
1998
Corpus ID: 46181536
OBJECTIVE To identify the defect in cobalamin metabolism in the human melanoma cell line MeWoLC1, and to determine how frequent…
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1991
1991
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD.
S. Byck
,
D. Rosenblatt
Clinical and investigative medicine. Medecine…
1991
Corpus ID: 43231606
Human skin fibroblasts derived from patients with all seven known inborn errors of vitamin B12 metabolism have been studied for…
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