Detalhe da pesquisa
1.
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.
Mol Genet Metab
; 131(1-2): 114-115, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32690443
2.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
J Inherit Metab Dis
; 38(5): 863-72, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25633902
3.
Update on transcobalamin deficiency: clinical presentation, treatment and outcome.
J Inherit Metab Dis
; 37(3): 461-73, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24305960
4.
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
Nat Genet
; 7(2): 195-200, 1994 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-7920641
5.
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.
Science
; 228(4705): 1319-21, 1985 Jun 14.
Artigo
Inglês
| MEDLINE | ID: mdl-4001945
6.
Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.
J Inherit Metab Dis
; 31 Suppl 2: S287-92, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18956254
7.
Human methylenetetrahydrofolate reductase: isolation of cDNA mapping and mutation identification.
Nat Genet
; 7(4): 551, 1994 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-7951330
8.
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.
J Clin Invest
; 81(6): 1690-4, 1988 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-3384945
9.
Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency.
J Clin Invest
; 63(5): 1019-25, 1979 May.
Artigo
Inglês
| MEDLINE | ID: mdl-447824
10.
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
J Clin Invest
; 93(4): 1812-9, 1994 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-7909321
11.
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
J Clin Invest
; 74(6): 2149-56, 1984 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-6511919
12.
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
J Clin Invest
; 87(1): 203-7, 1991 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-1670635
13.
Transcobalamin (TC) deficiency and newborn screening.
J Inherit Metab Dis
; 35(4): 727, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22167278
14.
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
Hum Mutat
; 27(7): 640-3, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16752391
15.
Transport competence of plasma membrane vesicles from cultured human fibroblasts.
Biochim Biophys Acta
; 819(1): 136-42, 1985 Sep 25.
Artigo
Inglês
| MEDLINE | ID: mdl-4041450
16.
Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).
J Med Genet
; 37(7): 510-3, 2000 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10882753
17.
Inherited disorders of vitamin B12 metabolism.
Blood Rev
; 1(3): 177-82, 1987 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-3332101
18.
Cobalamin and folate deficiency: acquired and hereditary disorders in children.
Semin Hematol
; 36(1): 19-34, 1999 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-9930566
19.
Mechanisms of teratogenesis: folic acid and antiepileptic therapy.
Neurology
; 42(4 Suppl 5): 32-42, 1992 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-1574174
20.
New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.
Pediatrics
; 78(1): 51-4, 1986 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-3725502