Lista de obras - Peter Witters - Dominio Público Uruguay

A coffee bean in an infant: Call the endoscopist

artículo científico publicado en 2017

A rare cause of persisting anaemia in a patient with a failing Fontan circulation

artículo científico publicado en 2016

ADP-degrading enzymes inhibit platelet activation in bile duct-ligated rats

artículo científico publicado en 2009

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis

Autism in patients with propionic acidemia.

artículo científico publicado en 2016

Beyond pancreatic insufficiency and liver disease in cystic fibrosis

artículo científico publicado en 2016

Central nervous involvement is common in PGM1-CDG

scientific article published on 21 August 2018

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

artículo científico publicado en 2020

Congenital veno-venous malformations of the liver: widely variable clinical presentations.

artículo científico publicado en 2007

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

artículo científico publicado en 2016

Evaluation of electrocardiographic algorithms in the assessment of the infarct-related artery in acute myocardial infarction

artículo científico publicado en 2006

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

artículo científico publicado en 2017

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

artículo científico publicado en 2017

Human T cell activation by costimulatory signal-deficient allogeneic cells induces inducible costimulator-expressing anergic T cells with regulatory cell activity.

artículo científico publicado en 2004

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates

scientific article published on 21 December 2018

Intrauterine thrombosis of the ductus venosus leading to neonatal demise

artículo científico publicado en 2011

King's Variceal Prediction Score: A Novel Noninvasive Marker of Portal Hypertension in Pediatric Chronic Liver Disease

artículo científico publicado en 2016

Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension

artículo científico publicado en 2017

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

artículo científico publicado en 2017

Liver involvement in kidney disease and vice versa.

artículo científico publicado en 2017

Lung transplantation in cystic fibrosis normalizes essential fatty acid profiles

artículo científico publicado en 2012

Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease

artículo científico publicado en 2009

Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease

artículo científico publicado en 2011

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

artículo científico publicado en 2016

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

artículo científico publicado en 2017

Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines.

artículo científico publicado en 2017

Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

scientific article published on 10 October 2019

Renal involvement in PMM2-CDG, a mini-review.

artículo científico publicado en 2017

Review article: blood platelet number and function in chronic liver disease and cirrhosis.

artículo científico publicado en 2008

The role of endothelial cells in cystic fibrosis

artículo científico publicado en 2019

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

scientific article published on 19 September 2019

Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine.

artículo científico publicado en 2010

Lista de obras de Peter Witters

A coffee bean in an infant: Call the endoscopist

A rare cause of persisting anaemia in a patient with a failing Fontan circulation

ADP-degrading enzymes inhibit platelet activation in bile duct-ligated rats

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis

Autism in patients with propionic acidemia.

Beyond pancreatic insufficiency and liver disease in cystic fibrosis

Central nervous involvement is common in PGM1-CDG

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

Congenital veno-venous malformations of the liver: widely variable clinical presentations.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Evaluation of electrocardiographic algorithms in the assessment of the infarct-related artery in acute myocardial infarction

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

Human T cell activation by costimulatory signal-deficient allogeneic cells induces inducible costimulator-expressing anergic T cells with regulatory cell activity.

Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates

Intrauterine thrombosis of the ductus venosus leading to neonatal demise

King's Variceal Prediction Score: A Novel Noninvasive Marker of Portal Hypertension in Pediatric Chronic Liver Disease

Liver disease in cystic fibrosis presents as non-cirrhotic portal hypertension

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Liver involvement in kidney disease and vice versa.

Lung transplantation in cystic fibrosis normalizes essential fatty acid profiles

Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease

Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines.

Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

Renal involvement in PMM2-CDG, a mini-review.

Review article: blood platelet number and function in chronic liver disease and cirrhosis.

The role of endothelial cells in cystic fibrosis

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine.