Found: 68
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Epstein–Barr virus‐associated smooth muscle tumor in a female with ataxia telangiectasia: A case report.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 7, p. 1, doi. 10.1002/pbc.31019
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- Article
Focal adhesion kinase and its epigenetic interactors as diagnostic and therapeutic hints for pediatric hepatoblastoma.
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- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1397647
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- Publication type:
- Article
Lymphomonocytic inflammatory infiltrate with numerous eosinophilic granulocytes in the interstitium in a surviving heart transplant recipient: a case report.
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- Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1341426
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- Article
Biliary atresia in preterm infants: a single center experience and review of literature.
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- Frontiers in Surgery, 2024, p. 01, doi. 10.3389/fsurg.2024.1353424
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- Publication type:
- Article
Pediatric Autoimmune Hepatitis.
- Published in:
- Pediatric Reports, 2024, v. 16, n. 1, p. 110, doi. 10.3390/pediatric16010011
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- Article
Application of a pattern‐based approach to histological diagnosis in very early onset IBD (VEO‐IBD) in a multicentric cohort of children with emphasis on monogenic disease with IBD‐like morphology.
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- Histopathology, 2024, v. 84, n. 3, p. 440, doi. 10.1111/his.15084
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- Publication type:
- Article
Histopathological Spectrum and Molecular Characterization of Liver Tumors in the Setting of Fontan-Associated Liver Disease.
- Published in:
- Cancers, 2024, v. 16, n. 2, p. 307, doi. 10.3390/cancers16020307
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- Article
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1276697
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- Article
Case Report: The impact of severe cryptosporidiosis on the gut microbiota of a pediatric patient with CD40L immunodeficiency.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2023, p. 01, doi. 10.3389/fcimb.2023.1281440
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- Article
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
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- Genes, 2023, v. 14, n. 3, p. 739, doi. 10.3390/genes14030739
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- Article
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.
- Published in:
- Minerva Pediatrics, 2023, v. 75, n. 1, p. 117, doi. 10.23736/S2724-5276.21.05969-3
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- Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
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- Article
Hemoadsorption for severe MIS-C in critically ill children, should we consider it as a therapeutic opportunity?
- Published in:
- 2022
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- Publication type:
- journal article
New Onset Cardiac Murmur and Exertional Dyspnea in an Apparently Healthy Child: A Rare Localization of Obstructive Myxoma in the Right Ventricle Outflow Tract without Pulmonary Embolization—A Case Report and Literature Review.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 19, p. 12888, doi. 10.3390/ijerph191912888
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- Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
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- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 10, p. 332, doi. 10.3390/jcdd9100332
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- Article
Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9996, doi. 10.3390/ijms23179996
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- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
- Published in:
- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Hemodynamic Assessment of a Large Pulmonary Arteriovenous Malformation in a Neonate: Case Report and Review of Literature.
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- Pediatric Cardiology, 2022, v. 43, n. 6, p. 1383, doi. 10.1007/s00246-022-02862-8
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- Publication type:
- Article
Changes in Total Homocysteine and Glutathione Levels After Laparoscopic Sleeve Gastrectomy in Children with Metabolic-Associated Fatty Liver Disease.
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- Obesity Surgery, 2022, v. 32, n. 1, p. 82, doi. 10.1007/s11695-021-05701-6
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- Article
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.
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- Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294
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- Publication type:
- Article
AIRE mutation triggering acute liver failure: between genetic testing and treatment options.
- Published in:
- Pediatric Transplantation, 2021, v. 25, n. 8, p. 1, doi. 10.1111/petr.14118
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- Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
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- Publication type:
- journal article
Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5778, doi. 10.3390/ijms22115778
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- Publication type:
- Article
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
- Published in:
- 2021
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- Publication type:
- journal article
Focal Adhesion Kinase (FAK) Over-Expression and Prognostic Implication in Pediatric Hepatocellular Carcinoma.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5795, doi. 10.3390/ijms21165795
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- Publication type:
- Article
ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.
- Published in:
- 2020
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- Publication type:
- journal article
Successful muscle regeneration by a homologous microperforated scaffold seeded with autologous mesenchymal stromal cells in a porcine esophageal substitution model.
- Published in:
- Therapeutic Advances in Gastroenterology, 2020, v. 13, p. 1, doi. 10.1177/1756284820923220
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- Publication type:
- Article
Targeting Epidermal Growth Factor Receptor (EGFR) in Pediatric Colorectal Cancer.
- Published in:
- Cancers, 2020, v. 12, n. 2, p. 414, doi. 10.3390/cancers12020414
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- Publication type:
- Article
Successful muscle regeneration by a homologous microperforated scaffold seeded with autologous mesenchymal stromal cells in a porcine esophageal substitution model.
- Published in:
- Therapeutic Advances in Gastroenterology, 2020, v. 13, p. 1, doi. 10.1177/1756284820923220
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- Publication type:
- Article
The interferon-gamma pathway is selectively up-regulated in the liver of patients with secondary hemophagocytic lymphohistiocytosis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0226043
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- Article
Establishment of a Seronegative Occult Infection With an Active Hepatitis B Virus Reservoir Enriched of Vaccine Escape Mutations in a Vaccinated Infant After Liver Transplantation.
- Published in:
- 2019
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- Publication type:
- journal article
Chronic liver involvement in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144
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- Publication type:
- Article
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.
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- 2018
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- Publication type:
- journal article
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 4, p. 1, doi. 10.15252/emmm.201708483
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- Publication type:
- Article
Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2717, doi. 10.3390/ijms18122717
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- Article
Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.
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- Pediatric Allergy & Immunology, 2017, v. 28, n. 8, p. 801, doi. 10.1111/pai.12814
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- Article
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
- Published in:
- 2017
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- Publication type:
- Letter
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2016, v. 83, n. 12/13, p. 1476, doi. 10.1007/s12098-016-2187-y
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- Publication type:
- Article
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2016, v. 83, n. 12/13, p. 1476, doi. 10.1007/s12098-016-2187-y
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- Publication type:
- Article
Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2016, v. 15, n. 5, p. 795, doi. 10.5604/16652681.1212621
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- Publication type:
- Article
The Impact of Specific Viruses on Clinical Outcome in Children Presenting with Acute Heart Failure.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 4, p. 486, doi. 10.3390/ijms17040486
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- Publication type:
- Article
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145021
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- Publication type:
- Article
Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.
- Published in:
- Liver International, 2015, v. 35, n. 12, p. 2501, doi. 10.1111/liv.12914
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- Publication type:
- Article
Right Ventricular Cardiomyopathies: A Multidisciplinary Approach to Diagnosis.
- Published in:
- Echocardiography, 2015, v. 32, p. 75, doi. 10.1111/echo.12399
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- Publication type:
- Article
Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.
- Published in:
- Liver International, 2015, v. 35, n. 1, p. 198, doi. 10.1111/liv.12504
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- Publication type:
- Article
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1735, doi. 10.1007/s00431-014-2447-7
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- Publication type:
- Article
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 5, p. 679, doi. 10.1111/cen.12400
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- Publication type:
- Article
How should eosinophilic cystitis be treated in patients with chronic granulomatous disease?
- Published in:
- 2014
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- Publication type:
- Report
Hepatic Fibrinogen Storage Disease Due to the Fibrinogen γ375 Arg → Trp Mutation “Fibrinogen Aguadilla” is present in Arabs.
- Published in:
- Saudi Journal of Gastroenterology, 2014, v. 20, n. 4, p. 255, doi. 10.4103/1319-3767.136985
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- Publication type:
- Article