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1.
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Mol Genet Metab;
141(3): 108144, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38277989
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab;
142(2): 108486, 2024 Apr 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38733639
3.
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.
Rev Endocr Metab Disord;
2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38556561
4.
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
J Inherit Metab Dis;
2024 May 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802119
5.
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.
J Inherit Metab Dis;
47(2): 244-254, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38185897
6.
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
BMC Biol;
21(1): 184, 2023 09 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37667308
7.
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels.
Hum Mol Genet;
29(2): 264-273, 2020 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31813960
8.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med;
24(8): 1781-1788, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503103
9.
Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing.
Hepatology;
74(5): 2491-2507, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34157136
10.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Blood;
136(9): 1033-1043, 2020 08 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-32294159
11.
Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders.
J Inherit Metab Dis;
45(6): 1018-1027, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36088581
12.
Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.
J Inherit Metab Dis;
45(6): 1118-1129, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35778950
13.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis;
45(4): 804-818, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35383965
14.
A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management.
J Inherit Metab Dis;
44(5): 1136-1150, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33834518
15.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
J Inherit Metab Dis;
44(5): 1124-1135, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33844307
16.
The potential of dietary treatment in patients with glycogen storage disease type IV.
J Inherit Metab Dis;
44(3): 693-704, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33332610
17.
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.
J Inherit Metab Dis;
44(1): 226-239, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33448466
18.
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis;
44(4): 926-938, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33543789
19.
Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.
J Inherit Metab Dis;
44(4): 879-892, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33739445
20.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med;
22(5): 908-916, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31904027