Detalhe da pesquisa
1.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243446
2.
Organic acidurias in Egyptian children: The urge for high-risk screening.
Pediatr Int
; 65(1): e15469, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609685
3.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
4.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Am J Med Genet A
; 182(1): 64-70, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729175
5.
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
J Inherit Metab Dis
; 43(6): 1173-1185, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681732
6.
Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.
Brain
; 139(Pt 4): 1045-51, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917598
7.
Evaluation of plasma cholestane-3ß,5α,6ß-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
J Lipid Res
; 57(3): 361-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733147
8.
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
J Inherit Metab Dis
; 39(5): 689-695, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27368975
9.
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
J Med Genet
; 50(2): 104-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23243084
10.
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Front Genet
; 14: 1307934, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38239854
11.
Creatine metabolism in urea cycle defects.
J Inherit Metab Dis
; 35(4): 647-53, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644604
12.
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Int J Environ Res Public Health
; 19(13)2022 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35805799
13.
ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series.
Endocrinol Diabetes Metab Case Rep
; 20212021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013890
14.
Vitamin D status in Hashimoto's thyroiditis and its association with vitamin D receptor genetic variants.
J Steroid Biochem Mol Biol
; 212: 105922, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015387
15.
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Orphanet J Rare Dis
; 16(1): 24, 2021 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33422100
16.
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Int J Environ Res Public Health
; 18(4)2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33572391
17.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Hum Mutat
; 31(3): 279-83, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20020533
18.
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
Int J Environ Res Public Health
; 17(10)2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443888
19.
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Mol Genet Metab
; 93(4): 475-80, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18164228
20.
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
Am J Med Genet A
; 146A(13): 1676-81, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18536048