Detalhe da pesquisa
1.
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study.
Child Care Health Dev
; 49(6): 961-971, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787987
2.
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
J Inherit Metab Dis
; 44(4): 916-925, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580884
3.
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Muscle Nerve
; 55(6): 841-848, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668838
4.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Am J Hum Genet
; 93(3): 482-95, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993194
5.
High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
Clin Chem Lab Med
; 54(7): 1221-9, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26650075
6.
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
Eur J Pediatr
; 175(8): 1123-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847429
7.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875215
8.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875216
9.
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
J Hepatol
; 61(4): 891-902, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24842304
10.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Brain Commun
; 6(3): fcae160, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38756539
11.
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report.
Transplant Proc
; 55(8): 1991-1994, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37537075
12.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Eur J Hum Genet
; 31(12): 1414-1420, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468577
13.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Int J Neonatal Screen
; 8(3)2022 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997437
14.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Hum Mutat
; 32(6): E2189-210, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21394825
15.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
J Inherit Metab Dis
; 34(3): 763-80, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465231
16.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Clin Epigenetics
; 13(1): 137, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215320
17.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1155-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077420
18.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1157-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077421
19.
Intravenous enzyme replacement therapy: hospital vs home.
Br J Nurs
; 19(14): 892-4, 896-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20647981
20.
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.
Front Neurol
; 11: 569153, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33329311