Cobalamins and folates as seen through inborn errors of metabolism: a review and perspective

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Cobalamins and folates as seen through inborn errors of metabolism: a review and perspective is …
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review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0083-6729(00)60024-9
P698PubMed publication ID11037629

P2093author name stringHaurani FI
P2860cites workA candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseQ24324172
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Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosisQ70980195
In vitro DNA synthesis by bone marrow cells and PHA-stimulated lymphocytes. Suppression by nonradioactive thymidine of the incorporation of 3H-deoxyuridine into DNA: enhancement of incorporation when inadequate vitamin B12 or folate is correctedQ71206363
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Lymphocyte Transformation in Megaloblastic Anaemia: Morphology and DNA SynthesisQ71588000
Demonstration That Mammalian Methionine Synthases Are Predominantly Cobalamin-loadedQ71977348
A comparison of tetrahydrofolate and 5-formyltetrahydrofolate in correcting the impairment of thymidine synthesis in pernicious anaemiaQ72113399
Absorption of Unaltered Folic Acid, from the Gastro-intestinal Tract in ManQ72288754
Intestinal Absorption and Malabsorption of FolatesQ72427520
Accumulation of 5-methyltetrahydrofolic acid and folylpolyglutamate synthetase expression by mitogen stimulated human lymphocytesQ72550746
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Methylmalonic acid excretion: an index of vitamin-B12 deficiencyQ76469030
EFFECT OF DEOXYURIDINE ON INCORPORATION OF TRITIATED THYMIDINE: DIFFERENCE BETWEEN NORMOBLASTS AND MEGALOBLASTSQ76820738
STUDIES ON THE MINIMUM DAILY REQUIREMENT FOR VITAMIN B12. HEMATOPOIETIC RESPONSES TO 0.1 MICROGM. OF CYANOCOBALAMIN OR COENZYME B12, AND COMPARISON OF THEIR RELATIVE POTENCYQ77113685
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Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a reviewQ41586869
Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).Q42037218
The neurologic aspects of transcobalamin II deficiencyQ44328958
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Heterogeneity in cblG: Differential retention of cobalamin on methionine synthaseQ44744407
Metabolic evidence of cobalamin deficiency in bone marrow cells harvested for transplantation from donors given nitrous oxide.Q45081845
Familial selective vitamin B 12 malabsorptionQ45154784
The VITA Project: C677T mutation in the methylene‐tetrahydrofolate reductase gene and risk of venous thromboembolismQ45882596
Vitamin B 12 and the Megaloblastic DevelopmentQ47974057
Folate transport by the choroid plexus in vitroQ48476074
Methylcobalamin corrects the deleterious in vitro effect of nitrous oxide on thymidylate synthetase.Q51832701
Relationship between Serum and Cerebrospinal Fluid FolateQ52119596
Recommended dietary intakes (RDI) of vitamin B-12 in humans.Q55060834
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.Q55061220
THE CONCENTRATION OF “FOLIC ACID”Q55933648
Purification of Anti-pernicious Anæmia Factors from LiverQ56960287
Folate-Induced Remission in Aplastic Anemia with Familial Defect of Cellular Folate UptakeQ67256428
The Lymphocyte as a Marker of Past Nutritional Status: Persistence of Abnormal Lymphocyte Deoxyuridine (dU) Suppression Test and Chromosomes in Patients with Past Deficiency of Folate and Vitamin B12Q67315592
Plasma R Binder DeficiencyQ68352529
Mechanism of reductive activation of cobalamin-dependent methionine synthase: an electron paramagnetic resonance spectroelectrochemical studyQ68454823
Plasma R binder deficiency and neurologic diseaseQ69453265
P407language of work or nameEnglishQ1860
P304page(s)353-381
P577publication date2000-01-01
P1433published inVitamins and HormonesQ15753296
P1476titleCobalamins and folates as seen through inborn errors of metabolism: a review and perspective
P478volume60

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Q51892668Vitamin B12 deficiency neurological syndromes: correlation of clinical, MRI and cognitive evoked potential.cites workP2860

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