标题
Inborn errors of cobalamin absorption and metabolism
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 157, Issue 1, Pages 33-44
出版商
Wiley
发表日期
2011-02-11
DOI
10.1002/ajmg.c.30288
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
- (2010) Katerina Homolova et al. HUMAN MUTATION
- Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12
- (2010) Edward V. Quadros et al. HUMAN MUTATION
- Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
- (2010) Mei-Ying Liu et al. JOURNAL OF HUMAN GENETICS
- Should transcobalamin deficiency be treated aggressively?
- (2010) Manuel Schiff et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Structural basis for receptor recognition of vitamin-B12–intrinsic factor complexes
- (2010) Christian Brix Folsted Andersen et al. NATURE
- Identification of multidrug resistance protein 1 (MRP1/ABCC1) as a molecular gate for cellular export of cobalamin
- (2009) R. Beedholm-Ebsen et al. BLOOD
- Genomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels
- (2009) Ralph Carmel et al. BRITISH JOURNAL OF HAEMATOLOGY
- The tinker, tailor, soldier in intracellular B12 trafficking
- (2009) Ruma Banerjee et al. CURRENT OPINION IN CHEMICAL BIOLOGY
- Spectrum of mutations inMMACHC, allelic expression, and evidence for genotypeâphenotype correlations
- (2009) Jordan P. Lerner-Ellis et al. HUMAN MUTATION
- A Human Vitamin B12Trafficking Protein Uses Glutathione Transferase Activity for Processing Alkylcobalamins
- (2009) Jihoe Kim et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Hydroxocobalamin dose escalation improves metabolic control in cblC
- (2009) N. Carrillo-Carrasco et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Asymptomatic Maternal Combined Homocystinuria and Methylmalonic Aciduria (cblC) Detected through Low Carnitine Levels on Newborn Screening
- (2009) Henry J. Lin et al. JOURNAL OF PEDIATRICS
- Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product
- (2009) Luciana Hannibal et al. MOLECULAR GENETICS AND METABOLISM
- High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
- (2009) Laurie E. Profitlich et al. MOLECULAR GENETICS AND METABOLISM
- Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
- (2009) Frank Rutsch et al. NATURE GENETICS
- The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin
- (2008) E. V. Quadros et al. BLOOD
- Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor geneGIF
- (2008) Andrea E. Ament et al. BRITISH JOURNAL OF HAEMATOLOGY
- Neonatal Vitamin B12 Deficiency Secondary to Maternal Subclinical Pernicious Anemia: Identification by Expanded Newborn Screening
- (2008) Michael Marble et al. JOURNAL OF PEDIATRICS
- Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism
- (2008) Isabelle R. Miousse et al. JOURNAL OF PEDIATRICS
- Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
- (2008) Célia Nogueira et al. MOLECULAR GENETICS AND METABOLISM
- Adenosyltransferase tailors and delivers coenzyme B12
- (2008) Dominique Padovani et al. Nature Chemical Biology
- Gene Identification for the cblD Defect of Vitamin B12Metabolism
- (2008) David Coelho et al. NEW ENGLAND JOURNAL OF MEDICINE
- Decyanation of vitamin B12 by a trafficking chaperone
- (2008) J. Kim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started