Found: 103
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Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Long-Term (>5 Years) Clinical and Histological Follow-up of Pediatric Liver Transplant Recipients After Successful Radiological Percutaneous Treatment of Biliary Strictures.
- Published in:
- 2016
- By:
- Publication type:
- letter
Successful Portal Vein Stent Placement in a Child with Cavernomatous Replacement of the Portal Vein After Partial Liver Transplantation: The Importance of a Recognizable Portal Vein Remnant.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Percutaneous management of biliary strictures after pediatric liver transplantation.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Differences in Physical Activity Levels between Healthy and Transplanted Children: Who Needs More Tips?
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 11, p. 1610, doi. 10.3390/healthcare11111610
- By:
- Publication type:
- Article
Impact of Two Antibiotic Therapies on Clinical Outcome and Gut Microbiota Profile in Liver Transplant Paediatric Candidates Colonized by Carbapenem-Resistant Klebsiella pneumoniae CR-KP.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2021, v. 11, p. 1, doi. 10.3389/fcimb.2021.730904
- By:
- Publication type:
- Article
Atopic dermatitis in a phenylketonuric untreated patient.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Atopic dermatitis in a phenylketonuric untreated patient.
- Published in:
- International Journal of Dermatology, 2013, v. 52, n. 6, p. 1, doi. 10.1111/ijd.12043
- By:
- Publication type:
- Article
Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 13, doi. 10.3390/nu16010013
- By:
- Publication type:
- Article
Pediatric Chronic Intestinal Failure in Italy: Report from the 2016 Survey on Behalf of Italian Society for Gastroenterology, Hepatology and Nutrition (SIGENP).
- Published in:
- Nutrients, 2017, v. 9, n. 11, p. 1217, doi. 10.3390/nu9111217
- By:
- Publication type:
- Article
A Population Game Model for the Expansion of Airbnb in the City of Venice.
- Published in:
- Sustainability (2071-1050), 2021, v. 13, n. 7, p. 3829, doi. 10.3390/su13073829
- By:
- Publication type:
- Article
Newborn screening for galactosemia: a 30-year single center experience.
- Published in:
- World Journal of Pediatrics, 2015, v. 11, n. 2, p. 160, doi. 10.1007/s12519-015-0017-3
- By:
- Publication type:
- Article
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Dihydropteridine reductase deficiency in man: From biology to treatment.
- Published in:
- Medicinal Research Reviews, 2004, v. 24, n. 2, p. 127, doi. 10.1002/med.10055
- By:
- Publication type:
- Article
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes.
- Published in:
- Human Heredity, 2001, v. 52, n. 3, p. 154, doi. 10.1159/000053371
- By:
- Publication type:
- Article
Differential response to renal replacement therapy in neonatal‐onset inborn errors of metabolism.
- Published in:
- Nephrology, 2018, v. 23, n. 10, p. 957, doi. 10.1111/nep.13409
- By:
- Publication type:
- Article
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.
- Published in:
- Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3
- By:
- Publication type:
- Article
Impact of blood transfusion on early outcome of liver resection for colorectal hepatic metastases.
- Published in:
- Journal of Surgical Oncology, 2011, v. 103, n. 2, p. 140, doi. 10.1002/jso.21796
- By:
- Publication type:
- Article
Trabecular complexity as an early marker of cardiac involvement in Fabry disease.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 2, p. 200, doi. 10.1093/ehjci/jeaa354
- By:
- Publication type:
- Article
NBAS mutations cause acute liver failure: when acetaminophen is not a culprit.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0406-4
- By:
- Publication type:
- Article
Metabolic progression to clinical phenotype in classic Fabry disease.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-016-0320-1
- By:
- Publication type:
- Article
Between Stirling and Olivetti: Ted Cullinan's Workplaces Design in the UK.
- Published in:
- Architecture (2673-8945), 2022, v. 2, n. 2, p. 196, doi. 10.3390/architecture2020011
- By:
- Publication type:
- Article
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 2, p. 261, doi. 10.1515/jpem-2020-0139
- By:
- Publication type:
- Article
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1519, doi. 10.1515/jpem-2020-0319
- By:
- Publication type:
- Article
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 101, doi. 10.1515/jpem-2018-0311
- By:
- Publication type:
- Article
Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 83, doi. 10.1515/jpem-2018-0485
- By:
- Publication type:
- Article
Early higher dosage of alglucosidase alpha in classic Pompe disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336
- By:
- Publication type:
- Article
Correction to: Newborn screening in mucopolysaccharidoses.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Newborn screening in mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0552-3
- By:
- Publication type:
- Article
Preliminary Evaluation of Sedentary Lifestyle in Italian Children after Solid Transplant: What Role Could Physical Activity Play in Health? It Is Time to Move.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 2, p. 990, doi. 10.3390/ijerph20020990
- By:
- Publication type:
- Article
Multidetector computed tomography hepatic findings in children with end-stage biliary atresia.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Restless legs syndrome in DNAJC12 deficiency.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2167, doi. 10.1007/s10072-023-06733-9
- By:
- Publication type:
- Article
Bone Impairment in Phenylketonuria Is Characterized by Circulating Osteoclast Precursors and Activated T Cell Increase.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014167
- By:
- Publication type:
- Article
Same Donor Laparoscopic Liver and Kidney Procurement for Sequential Living Donor Liver-Kidney Transplantation in Primary Hyperoxaluria Type I.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0
- By:
- Publication type:
- Article
Outcome after surgery for solid pseudopapillary pancreatic tumors in children: Report from the TREP project-Italian Rare Tumors Study Group.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.
- Published in:
- Pediatric Blood & Cancer, 2018, v. 65, n. 2, p. n/a, doi. 10.1002/pbc.26811
- By:
- Publication type:
- Article
Minimally invasive endovascular and biliary treatments of children with acute hepatic artery thrombosis following liver transplantation.
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 1, p. 94, doi. 10.1007/s00247-013-2772-4
- By:
- Publication type:
- Article
An unusual presentation of malignant hepatic epithelioid haemangioendothelioma with left pleural and pulmonary localization.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 9, p. 1027, doi. 10.1007/s00247-008-0915-9
- By:
- Publication type:
- Article
ASL expression in ALDH1A1<sup>+</sup> neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1471, doi. 10.1007/s00439-021-02345-5
- By:
- Publication type:
- Article
Liver Transplantation for Hemoperitoneum Secondary to Huge Multiple Hemangiomatosis: A Case Report of a Tele-intensive Care Unit in Deceased-Donor Management.
- Published in:
- Telemedicine & e-Health, 2015, v. 21, n. 6, p. 499, doi. 10.1089/tmj.2014.0145
- By:
- Publication type:
- Article
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.
- Published in:
- Stem Cell Research & Therapy, 2017, v. 8, p. 1, doi. 10.1186/s13287-017-0628-9
- By:
- Publication type:
- Article
Real-time ultrasound-guided placement of a pigtail catheter in supine position for draining pleural effusion in pediatric patients who have undergone liver transplantation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Biliary dilatation secondary to lithiasis in a child affected by Langerhans' cell histiocytosis.
- Published in:
- 2009
- By:
- Publication type:
- journal article
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648
- By:
- Publication type:
- Article
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636
- By:
- Publication type:
- Article
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 466, doi. 10.1002/jimd.12613
- By:
- Publication type:
- Article
Neurologic outcome following liver transplantation for methylmalonic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 450, doi. 10.1002/jimd.12599
- By:
- Publication type:
- Article
Obituary for Prof. Alberto Ponzone.
- Published in:
- 2022
- By:
- Publication type:
- Obituary
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
- By:
- Publication type:
- Article