Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277989
2.
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Nutrients
; 16(6)2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542723
3.
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.
Blood Adv
; 8(11): 2790-2802, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531056
4.
S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?
J Clin Med
; 12(6)2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983411
5.
Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.
Front Genet
; 13: 1019283, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583024
6.
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
JIMD Rep
; 63(3): 199-206, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433171
7.
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland.
Pediatr Endocrinol Diabetes Metab
; 28(3): 207-212, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35620924
8.
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Pediatr Endocrinol Diabetes Metab
; 28(2): 141-151, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35620925
9.
Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.
Children (Basel)
; 8(7)2021 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34206602
10.
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Mol Genet Metab Rep
; 29: 100801, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34631424
11.
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations.
Mol Genet Metab Rep
; 22: 100559, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31921599
12.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Ann Clin Transl Neurol
; 6(3): 515-524, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911575
13.
[Treatment of gastro-esophageal reflux in children and premature infants]. / Leczenie refluksu zoladkowo-przelykowego u dzieci i noworodków urodzonych przedwczesnie.
Med Wieku Rozwoj
; 12(4 Pt 1): 912-23, 2008.
Artigo
em Polonês
| MEDLINE | ID: mdl-19471067
14.
[Prevention of osteopenia in premature infants]. / Zapobieganie osteopenii u wczesniaków.
Med Wieku Rozwoj
; 12(4 Pt 1): 924-32, 2008.
Artigo
em Polonês
| MEDLINE | ID: mdl-19471068