Literature DB >> 4853163

Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.

M J Dillon, J M England, D Gompertz, P A Goodey, D B Grant, H A Hussein, J C Linnell, D M Matthews, S H Mudd, G H Newns, J W Seakins, B W Uhlendorf, I J Wise.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1974        PMID： 4853163     DOI： 10.1042/cs0470043

Source DB:  PubMed          Journal:  Clin Sci Mol Med        ISSN： 0301-0538


× No keyword cloud information.
  13 in total

1.  Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

Authors:  M J Mahoney; A C Hart; V D Steen; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1975-07       Impact factor: 11.205

2.  Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors:  H F Willard; I S Mellman; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-01       Impact factor: 11.025

3.  Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

Authors:  I Mellman; H F Willard; L E Rosenberg
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

Review 4.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

Review 5.  Cobalamin deficiency and related disorders in infancy and childhood.

Authors:  D M Matthews; J C Linnell
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

6.  Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin.

Authors:  L E Rosenberg; L Patel; A C Lilljeqvist
Journal:  Proc Natl Acad Sci U S A       Date:  1975-11       Impact factor: 11.205

Review 7.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Authors:  D Leupold
Journal:  Klin Wochenschr       Date:  1977-01-15

8.  Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin.

Authors:  M L Batshaw; G H Thomas; S R Cohen; R Matalon; M J Mahoney
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

10.  The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Authors:  Jennifer L Sloan; Nathan P Achilly; Madeline L Arnold; Jerrel L Catlett; Trevor Blake; Kevin Bishop; Marypat Jones; Ursula Harper; Milton A English; Stacie Anderson; Niraj S Trivedi; Abdel Elkahloun; Victoria Hoffmann; Brian P Brooks; Raman Sood; Charles P Venditti
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.