Bibliotecas PUC-SP - Busca Integrada

Understanding Inborn Errors of Metabolism through Metabolomics

Autor Karen Driesen, Peter Witters
Vydáno v Metabolites (2022-04-01)

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Autor Peter Witters, David Cassiman, Eva Morava
Vydáno v Nutrients (2017-11-01)

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature

Autor Ariane De Preter, Anne Rochtus, Peter Witters, Daisy Rymen
Vydáno v Molecular Genetics and Metabolism Reports (2025-06-01)

Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology

Autor Karen Driesen, Sam De Craemer, Eva Morava, David Cassiman, Peter Witters, Bart Ghesquière
Vydáno v ACS Omega (2025-09-01)

Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature

Autor Evi Jaspers, Ine Van Dijck, Ilse Hoffman, Noël Knops, Xavier Stéphenne, Peter Witters, Marijke Proesmans
Vydáno v BMC Pediatrics (2022-05-01)

Genotype-Phenotype Correlations in PMM2-CDG

Autor Laurien Vaes, Daisy Rymen, David Cassiman, Anna Ligezka, Nele Vanhoutvin, Dulce Quelhas, Eva Morava, Peter Witters
Vydáno v Genes (2021-10-01)

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Autor Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava
Vydáno v Orphanet Journal of Rare Diseases (2021-03-01)

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Autor Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava
Vydáno v Orphanet Journal of Rare Diseases (2021-02-01)

Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction

Autor Isabelle Adant, Matthew Bird, Bram Decru, Petra Windmolders, Marie Wallays, Peter de Witte, Daisy Rymen, Peter Witters, Pieter Vermeersch, David Cassiman, Bart Ghesquière
Vydáno v Molecular Metabolism (2022-09-01)

Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice

Autor Kathrin Burgmaier, Joy Brandt, Rukshana Shroff, Peter Witters, Lutz T. Weber, Jörg Dötsch, Franz Schaefer, Djalila Mekahli, Djalila Mekahli, Max C. Liebau, Max C. Liebau
Vydáno v Frontiers in Pediatrics (2018-06-01)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Autor Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
Vydáno v JIMD Reports (2020-01-01)

Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

Autor Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan, Sarah C Gruenert, Bart Ghesquière, Peter Witters, David Cassiman, Pieter Vermeersch
Vydáno v Metabolites (2019-10-01)

Optimisation of children z-score calculation based on new statistical techniques.

Autor Antonio Martinez-Millana, Jessie M Hulst, Mieke Boon, Peter Witters, Carlos Fernandez-Llatas, Ines Asseiceira, Joaquin Calvo-Lerma, Ignacio Basagoiti, Vicente Traver, Kris De Boeck, Carmen Ribes-Koninckx
Vydáno v PLoS ONE (2018-01-01)

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Autor George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Vydáno v Orphanet Journal of Rare Diseases (2022-12-01)

Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Autor George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Vydáno v Orphanet Journal of Rare Diseases (2023-03-01)

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Autor Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts
Vydáno v Orphanet Journal of Rare Diseases (2018-05-01)

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Autor Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters
Vydáno v Cellular and Molecular Life Sciences (2025-06-01)

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Autor Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers
Vydáno v HGG Advances (2021-10-01)

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel
Vydáno v Molecular Therapy: Methods & Clinical Development (2020-06-01)