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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
- Published in:
- 2016
- By:
- Publication type:
- journal article
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 400, doi. 10.1038/ng1325
- By:
- Publication type:
- Article
A uthors' R eply.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1999, v. 106, n. 2, p. 182, doi. 10.1111/j.1471-0528.1999.tb08225.x
- By:
- Publication type:
- Article
Successful pregnancy in a patient with type III glycogen storage disease managed with cornstarch supplements.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 6, p. 677, doi. 10.1111/j.1471-0528.1998.tb10186.x
- By:
- Publication type:
- Article
Difficult management choices for infants with short bowel syndrome and liver failure.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A prospective study of endoscopic esophageal variceal ligation using a multiband ligator.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Clinical and molecular genetic features of ARC syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
- By:
- Publication type:
- Article
Changing strategies for organ transplantation in atypical haemolytic uraemic syndrome: A tertiary case series.
- Published in:
- Pediatric Transplantation, 2013, v. 17, n. 3, p. E93, doi. 10.1111/petr.12066
- By:
- Publication type:
- Article
ABO-incompatible pediatric liver transplantation in very small recipients: Birmingham's experience.
- Published in:
- Pediatric Transplantation, 2011, v. 15, n. 7, p. 706, doi. 10.1111/j.1399-3046.2011.01541.x
- By:
- Publication type:
- Article
Immunosuppression in infants with short bowel syndrome undergoing isolated liver transplantation.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 6, p. 677, doi. 10.1111/j.1399-3046.2006.00504.x
- By:
- Publication type:
- Article
Population pharmacokinetic and pharmacogenetic analysis of tacrolimus in paediatric liver transplant patients.
- Published in:
- British Journal of Clinical Pharmacology, 2014, v. 77, n. 1, p. 130, doi. 10.1111/bcp.12174
- By:
- Publication type:
- Article
Influence of ABCB1 polymorphisms and haplotypes on tacrolimus nephrotoxicity and dosage requirements in children with liver transplant.
- Published in:
- British Journal of Clinical Pharmacology, 2009, v. 68, n. 3, p. 413, doi. 10.1111/j.1365-2125.2009.03461.x
- By:
- Publication type:
- Article
An uncommon cause of early infantile liver disease and raised chitotriosidase.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 22, doi. 10.1002/jmd2.12123
- By:
- Publication type:
- Article
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 4, doi. 10.1002/jmd2.12027
- By:
- Publication type:
- Article
Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1.
- Published in:
- Drugs, 2006, v. 66, n. 6, p. 743, doi. 10.2165/00003495-200666060-00002
- By:
- Publication type:
- Article
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 181, doi. 10.1007/s10545-017-0112-9
- By:
- Publication type:
- Article
Combined liver–kidney transplantation for primary hyperoxaluria type 1 in young children.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 2, p. 348, doi. 10.1093/ndt/16.2.348
- By:
- Publication type:
- Article
Living Related Liver Transplantation for Metabolic Liver Diseases in Children.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Multiparametric Magnetic Resonance Imaging to Monitor Pediatric Liver Disease: Looks Interesting but More Work to Do.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Bye Bye Benzoate: What next for Hyperammonemia in Liver Disease?
- Published in:
- 2020
- By:
- Publication type:
- journal article
Transjugular Intrahepatic Portosystemic Shunt Insertion for the Management of Portal Hypertension in Children.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Stomal varices manifestation of portal hypertension in advanced intestinal failure-associated liver disease.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Primary prophylaxis of variceal hemorrhage in children with portal hypertension: a framework for future research.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Paediatric Hepatology Dependency Score (PHD Score): An Audit Tool.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2007, v. 44, n. 1, p. 108, doi. 10.1097/01.mpg.0000243427.86345.25
- By:
- Publication type:
- Article
Safety and efficacy of octreotide in the immediate control of oesophageal variceal bleeding.
- Published in:
- 2004
- By:
- Publication type:
- commentary
Letters to the Editor.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2004, v. 39, n. 4, p. 437, doi. 10.1097/00005176-200410000-00029
- By:
- Publication type:
- Article
Acute fatty liver disease after suprasellar tumor resection.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration.
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 1, p. 354, doi. 10.1093/ndt/gfq353
- By:
- Publication type:
- Article
Liver transplant for inherited metabolic disease among siblings.
- Published in:
- Clinical Transplantation, 2020, v. 34, n. 11, p. 1, doi. 10.1111/ctr.14090
- By:
- Publication type:
- Article
Long‐term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience.
- Published in:
- Pediatric Transplantation, 2021, v. 25, n. 8, p. 1, doi. 10.1111/petr.14108
- By:
- Publication type:
- Article
Successful liver transplantation in short telomere syndromes without bone marrow failure due to DKC1 mutation.
- Published in:
- Pediatric Transplantation, 2020, v. 24, n. 3, p. 1, doi. 10.1111/petr.13695
- By:
- Publication type:
- Article