Detalhe da pesquisa
1.
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
J Inherit Metab Dis
; 39(5): 697-704, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106217
2.
Dietary management in glycogen storage disease type III: what is the evidence?
J Inherit Metab Dis
; 38(3): 545-50, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25164784
3.
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
J Inherit Metab Dis
; 38(3): 529-36, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25224825
4.
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
J Inherit Metab Dis
; 38(2): 323-31, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25048386
5.
Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
Kidney Int
; 86(4): 747-56, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24717294
6.
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 37(5): 783-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24623196
7.
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.
Hum Mutat
; 34(7): 967-73, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23504699
8.
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I.
J Hepatol
; 58(2): 350-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23046672
9.
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11ß gene.
J Med Genet
; 49(5): 307-13, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581968
10.
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients.
J Inherit Metab Dis
; 35(2): 287-300, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21863279
11.
Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia.
J Pediatr Gastroenterol Nutr
; 64(2): e52-e54, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25304890
12.
Glycogen storage disease type III diagnosis and management guidelines.
Genet Med
; 12(7): 446-63, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20631546
13.
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases.
J Inherit Metab Dis
; 38(5): 987, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25989743
14.
Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice.
Hepatology
; 47(3): 1032-42, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18302288
15.
Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice.
Hepatology
; 47(6): 1894-904, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18459129
16.
Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding?
Mol Genet Metab
; 109(1): 1-2, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23480859
17.
Pregnancies in glycogen storage disease type Ia.
Am J Obstet Gynecol
; 198(6): 646.e1-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18241814
18.
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.
J Pediatr
; 151(2): 115-20, 120.e1-3, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17643759
19.
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.
Ultrasound Med Biol
; 42(1): 133-42, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437929
20.
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
Eur J Hum Genet
; 13(8): 947-52, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15870827