(Q40931034)

25 September 2017

1 reference

title

Inherited errors of cobalamin metabolism and their management (English)

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25 September 2017

Linnell JC

1

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25 September 2017

Bhatt HR

series ordinal

2

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25 September 2017

publication date

1 September 1995

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Best Practice and Research: Clinical Haematology

25 September 2017

published in

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25 September 2017

volume

8

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25 September 2017

issue

3

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25 September 2017

page(s)

567-601

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Imerslund-Gräsbeck Syndrome in a Saudi Family

25 September 2017

cites work

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7 January 2021

Megaloblastic haemopoiesis in patients receiving nitrous oxide

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7 January 2021

Prenatal Therapy of a Patient with Vitamin-B12-Responsive Methylmalonic Acidemia

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7 January 2021

Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection

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7 January 2021

Effect of methylamalonic acid on gluconeogenesis in isolated rat and guinea-pig hepatocytes

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7 January 2021

Methylmalonate excretion in a patient with pernicious anemia

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7 January 2021

Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin

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7 January 2021

Biosynthesis of the pigments of life: formation of the macrocycle

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7 January 2021

Vitamin B12 homoeostasis after haemorrhage in the rat: the importance of skeletal muscle

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7 January 2021

A sensitive micromethod for the routine estimation of methylmalonic acid in body fluids and tissues using thin layer chromatography

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7 January 2021

Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin.

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7 January 2021

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

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7 January 2021

Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient

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7 January 2021

Methylmalonic acid excretion: an index of vitamin-B12 deficiency

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7 January 2021

Cobalamins in human pregnancy and lactation

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7 January 2021

School performance in very preterm children

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7 January 2021

Transport of vitamin B12 into mouse leukemia cells

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7 January 2021

Problems with the serum vitamin B12 assay

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7 January 2021

Conversion of hydroxo(aquo)cobalamin to sulfitocobalamin in the absence of light: a reaction of importance in the identification of the forms of vitamin B12, with possible clinical significance

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7 January 2021

Genetic and biochemical analysis of human cobalamin mutants in cell culture

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7 January 2021

Nature of the relationship between vitamin B12 binding and cell uptake

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7 January 2021

Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs

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7 January 2021

Development of Mammalian Sulfur Metabolism: Absence of Cystathionase in Human Fetal Tissues

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7 January 2021

Cobalamin C defect associated with hemolytic-uremic syndrome

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7 January 2021

Determination of cobalamins in biological material. I. Improvement in the unequal recovery of cobalamins by preincubation with cadmium acetate

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7 January 2021

The measurement of urinary methylmalonic acid by a combination of thin-layer and gas chromoatography

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7 January 2021

Homocystinuria with methylmalonic aciduria: Two cases in a sibship

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7 January 2021

Familial selective vitamin B 12 malabsorption

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7 January 2021

Function of vitamin B12 in methylmalonate metabolism. I. Effect of a cofactor form of B12 on the activity of methylmalonyl-CoA isomerase

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7 January 2021

Neonatal Megaloblastic Anemia Due to Inherited Transcobalamin II Deficiency in Two Siblings

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7 January 2021

Function of vitamin B12 in the central nervous system as revealed by congenital defects

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7 January 2021

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

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7 January 2021

A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian

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7 January 2021

Hereditary transcobalamin II deficiency: clinical findings in a new family

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7 January 2021

Structure of vitamin B12.

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7 January 2021

Vitamin B12 deficiency in Indian infants. A clinical syndrome

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7 January 2021

Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): comparison to human intrinsic factor

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7 January 2021

Cobalamin Analogues Are Present in Human Plasma and Can Mask Cobalamin Deficiency because Current Radioisotope Dilution Assays Are Not Specific for True Cobalamin

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7 January 2021

Megaloblastic anemia of infancy secondary to maternal pernicious anemia

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7 January 2021

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

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7 January 2021

A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria

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7 January 2021

Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia

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7 January 2021

The effect of cobamide coenzyme in methylmalonic acidemia

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7 January 2021

Isolation of Methylcobalamin from Natural Source Material

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7 January 2021

ON VITAMIN B12 FORMS IN HUMAN PLASMA

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7 January 2021

Cobalamin metabolism and its clinical aspects

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7 January 2021

Distribution of Endogenous Cobalamin between the Transcobalamins in Various Mammals

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7 January 2021

Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency

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7 January 2021

Cobalamins in Fibroblasts Cultured from Normal Control Subjects and Patients with Methylmalonic Aciduria

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7 January 2021

Nitrous oxide and megaloblastosis: biochemical mechanism

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7 January 2021

Pernicious Anemia in Childhood

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7 January 2021

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

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7 January 2021

Deranged B12 metabolism: Effects on sulfur amino acid metabolism

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7 January 2021

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

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7 January 2021

Glutathionylcobalamin as an intermediate in the formation of cobalamin coenzymes

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7 January 2021

Characterization of the human placental membrane receptor for transcobalamin II-cobalamin

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7 January 2021

Tissue distribution of endogenous cobalamins and other corrins in the rat, cat and guinea pig

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7 January 2021

Isolation of 57Co-cobalamin coenzymes at high specific activity from Streptomyces griseus

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7 January 2021

Crystalline Vitamin B12.

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7 January 2021

Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities

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7 January 2021

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

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7 January 2021

Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency

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7 January 2021

Inherited disorders of vitamin B12 utilization

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7 January 2021

Tubulointerstitial nephritis in methylmalonic acidemia

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7 January 2021

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

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7 January 2021

Impaired chemiluminescence and bactericidal killing by neutrophils from patients with severe cobalamin deficiency

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7 January 2021

Partial Synthesis of Vitamin B12 Coenzyme and Analogues

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7 January 2021

Observations on the aminoaciduria in megaloblastic anaemia

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7 January 2021

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

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7 January 2021

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease

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7 January 2021

Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum

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7 January 2021

Impairments, disabilities, and handicaps of very preterm and very-low-birthweight infants at five years of age. The Collaborative Project on Preterm and Small for Gestational Age Infants (POPS) in The Netherlands

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7 January 2021

Correlations between holo-transcobalamin II, holo-haptocorrin, and total B12 in serum samples from healthy subjects and patients

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7 January 2021

Plasma-cobalamins in neuro-ophthalmological diseases

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7 January 2021

10.1016/S0950-3536(05)80221-5

Identifiers

DOI

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25 September 2017

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