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1.
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
N Engl J Med
; 390(7): 623-629, 2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38354141
2.
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
3.
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
4.
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
5.
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
6.
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
J Inherit Metab Dis
; 43(4): 770-777, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32064649
7.
Safety issues associated with dietary management in patients with hepatic glycogen storage disease.
Mol Genet Metab
; 125(1-2): 79-85, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30037503
8.
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
J Inherit Metab Dis
; 41(6): 929-936, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29600495
9.
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
J Inherit Metab Dis
; 40(5): 695-702, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28397058
10.
The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases.
Genet Med
; 22(11): 1915-1916, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655139
11.
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures.
JIMD Rep
; 63(1): 29-40, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-35028269
12.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Nutrients
; 13(11)2021 Oct 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34836082
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23480859
14.
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.
JIMD Rep
; 28: 41-47, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26526422
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