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1.
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Metab Brain Dis
; 36(7): 2169-2172, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34427841
2.
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Nutrients
; 16(6)2024 Mar 13.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36983411
5.
Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis.
Front Genet
; 13: 1019283, 2022.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35620925
9.
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.
Front Genet
; 12: 674722, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34163527
10.
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Mol Genet Metab Rep
; 29: 100801, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34631424
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