Detalhe da pesquisa
1.
Thrombotic Features as the Primary Cause of SARS-CoV-2 Related Acute Abdomen in Children.
J Pediatr Gastroenterol Nutr
; 77(4): 474-478, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490586
2.
Congenital syphilis in the twenty-first century: an area-based study.
Eur J Pediatr
; 182(1): 41-51, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376519
3.
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012218
4.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872
5.
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis.
Gastroenterology
; 156(4): 1173-1189.e5, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452922
6.
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
J Inherit Metab Dis
; 42(6): 1147-1161, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723942
7.
Chronic liver involvement in urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1118-1127, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260111
8.
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Genet Med
; 20(10): 1255-1265, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419818
9.
A promising medium-term follow-up of pediatric sclerosing cholangitis: Mild phenotype or early diagnosis?
Hepatol Res
; 48(7): 556-565, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316057
10.
Continuous Erector Spinae Plane Block for Pain Management in a Pediatric Kidney Transplant Recipient: A Case Report and Review of the Current Literature.
J Clin Med
; 13(4)2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38398441
11.
Ultrasound findings in early congenital syphilis: Two case reports and literature review.
Radiol Case Rep
; 19(5): 1859-1865, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425775
12.
Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.
J Clin Immunol
; 33(7): 1185-91, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975689
13.
Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis.
Front Pediatr
; 11: 1061535, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865697
14.
Vitamin D Levels in the Pre- and Post-COVID-19 Pandemic Periods and Related Confinement at Pediatric Age.
Nutrients
; 15(9)2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432239
15.
Telemedicine in Patients Affected by Chronic Liver Disease: A Scoping Review of Clinical Outcomes and the Devices Evaluated.
J Clin Med
; 12(15)2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37568531
16.
Penicillamine-induced Elastosis Perforans Serpiginosa in Wilson Disease: Is Useful Switching to Zinc?
J Pediatr Gastroenterol Nutr
; 64(3): e72-e73, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341025
17.
Liver and Pancreatic Involvement in Children with Multisystem Inflammatory Syndrome Related to SARS-CoV-2: A Monocentric Study.
Children (Basel)
; 9(4)2022 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35455620
18.
Consumptive Hypothyroidism due to Hepatic Hemangiomas: A Case Series and Review of the Literature.
JPGN Rep
; 3(4): e270, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37168485
19.
Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group.
Dig Liver Dis
; 54(1): 40-53, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34688573
20.
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.
Hepatology
; 52(6): 1948-56, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967755