(Q33394088)

26 July 2017

title

Inborn errors of cobalamin absorption and metabolism (English)

1 reference

26 July 2017

David Watkins

1

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26 July 2017

David S Rosenblatt

series ordinal

2

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26 July 2017

publication date

10 February 2011

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

26 July 2017

published in

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26 July 2017

volume

157C

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26 July 2017

issue

1

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26 July 2017

page(s)

33-44

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Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Diagnosis of cobalamin deficiency I: usefulness of serum methylmalonic acid and total homocysteine concentrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The tinker, tailor, soldier in intracellular B12 trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of multidrug resistance protein 1 (MRP1/ABCC1) as a molecular gate for cellular export of cobalamin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Genomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Hydroxocobalamin dose escalation improves metabolic control in cblC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Gene identification for the cblD defect of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Inherited defects of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Vitamin B12Binders (Transcobalamins) in Serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Defects in human methionine synthase in cblG patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Megaloblastic anemia as a result of an abnormal transcobalamin II (Cardeza)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The amnionless gene, essential for mouse gastrulation, encodes a visceral-endoderm-specific protein with an extracellular cysteine-rich domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Vitamin B12 Malabsorption Due to a Biologically Inert Intrinsic Factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Decyanation of vitamin B12 by a trafficking chaperone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The Natural History of the Inherited Methylmalonic Acidemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

21 January 2018

Haptocorrin in humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Human methionine synthase reductase, a soluble P-450 reductase-like dual flavoprotein, is sufficient for NADPH-dependent methionine synthase activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Expression of transcobalamin II by amniocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Should transcobalamin deficiency be treated aggressively?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Structure of ATP-bound human ATP:cobalamin adenosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Vitamin B12 deficiency as a worldwide problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Methylmalonic acidemia with a severe chemical but benign clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.30288

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.30288

1 reference

26 July 2017

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