Detalhe da pesquisa
1.
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
Mol Genet Metab
; 126(4): 470-474, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30792122
2.
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.
J Inherit Metab Dis
; 42(3): 494-500, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847922
3.
Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.
Osteoporos Int
; 29(12): 2781-2789, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143849
4.
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function.
Clin Genet
; 89(4): 489-494, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26212233
5.
Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.
Osteoporos Int
; 27(11): 3331-3341, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256333
6.
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.
J Inherit Metab Dis
; 38(6): 1119-27, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26016802
7.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Hum Genet
; 133(5): 625-38, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326587
8.
Questions about a vegan diet should be included in differential diagnostics of neurologically abnormal infants with failure to thrive.
Acta Paediatr
; 108(8): 1377-1379, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006905
9.
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.
J Inherit Metab Dis
; 36(6): 1015-24, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494656
10.
Adherence issues in inherited metabolic disorders treated by low natural protein diets.
Ann Nutr Metab
; 61(4): 289-95, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23208158
11.
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
Clin Genet
; 76(3): 263-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19793055
12.
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
J Inherit Metab Dis
; 30(2): 248-55, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17334708
13.
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
J Inherit Metab Dis
; 30(3): 341-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17417720
14.
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
J Med Genet
; 43(12): e58, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17142620
15.
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.
JIMD Rep
; 20: 103-11, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665836
16.
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
Eur J Hum Genet
; 4(1): 39-45, 1996.
Artigo
em Inglês
| MEDLINE | ID: mdl-8800927
17.
Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
Br J Dermatol
; 160(3): 704-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18945316
18.
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Ophthalmic Genet
; 24(1): 49-57, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12660866
19.
Metabolism of some radiolabeled essential fatty acids in isolated rat hepatocytes is affected by dietary ethanol.
Alcohol
; 21(1): 19-26, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10946154
20.
On the mechanism of biosynthesis of cholestanol from 7 alpha-hydroxycholesterol.
Scand J Clin Lab Invest Suppl
; 184: 41-6, 1986.
Artigo
em Inglês
| MEDLINE | ID: mdl-3109015