Detalhe da pesquisa
1.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35503103
2.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33634872
3.
Histologically atypical case of Gaucher disease type 1.
BMJ Case Rep
; 16(9)2023 Sep 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37775277
4.
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.
JIMD Rep
; 64(5): 337-345, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37701323
5.
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.
Orphanet J Rare Dis
; 17(1): 195, 2022 05 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35549996
6.
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.
JIMD Rep
; 63(4): 271-275, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35822098
7.
Ethylmalonic encephalopathy masquerading as meningococcemia.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35165146
8.
The natural history of glycogen storage disease type Ib in England: A multisite survey.
JIMD Rep
; 59(1): 52-59, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-33977030
9.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun
; 9(1): 4065, 2018 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30283131
10.
Wormian bones: thinking beyond osteogenesis imperfecta.
Arch Dis Child
; 106(11): 1057, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33419725