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.
Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis.
Cytokine
; 173: 156410, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924740
3.
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Pediatr Blood Cancer
; 70(7): e30334, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046411
4.
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
BMC Med
; 20(1): 95, 2022 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341481
5.
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
em Inglês
| MEDLINE | ID: mdl-35503103
6.
Coexistence of Gaucher Disease and severe congenital neutropenia.
Blood Cells Mol Dis
; 76: 1-6, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473482
7.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Mol Genet Metab
; 122(1-2): 67-75, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689740
8.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Mol Genet Metab
; 121(3): 206-215, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28583327
9.
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Metab Brain Dis
; 32(3): 675-678, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28281033
10.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Neuropediatrics
; 46(2): 98-103, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25642805
11.
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum Genet
; 133(1): 29-39, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23982343
12.
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metab Brain Dis
; 29(3): 809-12, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788897
13.
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
J Pediatr Endocrinol Metab
; 37(1): 33-41, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37925743
14.
Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy.
Blood Cells Mol Dis
; 68: 180-184, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111116
15.
Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia.
Pediatr Int
; 54(5): 717-20, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23005907
16.
Two siblings with galactose mutarotase deficiency: Clinical differences.
JIMD Rep
; 63(1): 25-28, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028268
17.
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
Turk J Pediatr
; 64(5): 946-950, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305448
18.
Long-term follow-up of alkaptonuria patients: single center experience.
J Pediatr Endocrinol Metab
; 35(7): 913-923, 2022 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35671204
19.
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.
Eur J Pediatr
; 169(2): 241-3, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19434424
20.
LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors.
Talanta
; 209: 120558, 2020 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31892015