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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.
Article
in English
| 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 Jun.
Article
in English
| MEDLINE | ID: mdl-38733639
3.
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
J Inherit Metab Dis
; 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802119
4.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38563533
5.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38375550
6.
METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS.
Retina
; 44(6): 1052-1062, 2024 Jun 01.
Article
in English
| MEDLINE | ID: mdl-38261977
7.
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
J Inherit Metab Dis
; 46(1): 15-27, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36134599
8.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37429829
9.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36266255
10.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
J Inherit Metab Dis
; 46(6): 1043-1062, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37603033
11.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35503103
12.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33581104
13.
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
J Inherit Metab Dis
; 44(6): 1330-1342, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34297429
14.
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
J Inherit Metab Dis
; 44(4): 893-902, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33638202
15.
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
J Inherit Metab Dis
; 44(4): 1039-1050, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33661535
16.
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
J Inherit Metab Dis
; 44(4): 916-925, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33580884
17.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33595124
18.
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.
Article
in English
| MEDLINE | ID: mdl-33844307
19.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis
; 44(4): 857-870, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33496032
20.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33274439