Detalhe da pesquisa
1.
Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control.
Mol Genet Metab
; 138(3): 107509, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791482
2.
Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b.
Pediatr Dermatol
; 38(5): 1302-1304, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418148
3.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab
; 131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004274
4.
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
J Inherit Metab Dis
; 41(2): 187-196, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368224
5.
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Nutr J
; 17(1): 51, 2018 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753318
6.
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
7.
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
8.
Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.
Pediatr Blood Cancer
; 62(6): 1091-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504888
9.
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Mol Genet Metab
; 105(3): 433-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22214819
10.
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Mol Genet Metab
; 105(4): 602-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264772
11.
Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency.
JIMD Rep
; 63(3): 207-210, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433174
12.
Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.
JIMD Rep
; 63(6): 521-523, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341170
13.
Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.
Genes (Basel)
; 13(7)2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885946
14.
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.
JIMD Rep
; 63(4): 303-308, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822091
15.
The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
Genes (Basel)
; 12(8)2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440378
16.
Successful pregnancy in a woman with glycogen storage disease type 6.
Mol Genet Metab Rep
; 27: 100770, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026552
17.
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Pediatrics
; 146(5)2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051224
18.
Against all odds: blended phenotypes of three single-gene defects.
Eur J Hum Genet
; 24(9): 1274-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813946
19.
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
Brain Dev
; 33(5): 432-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20926213
20.
Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHß Subunit Gene.
Case Rep Pediatr
; 2011: 369871, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22606512