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Author/Creator Witters, Peter

3. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016)

Authors:
Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
713
Record Type:
Journal Article
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4. Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study. Issue 2 (19th August 2019)

Authors:
Baiges, Anna; Turon, Fanny; Simón‐Talero, Macarena; Tasayco, Stephanie; Bueno, Javier; Zekrini, Kamal; Plessier, Aurélie; Franchi‐Abella, Stéphanie; Guerin, Florent; Mukund, Amar; Eapen, C.E.; Goel, Ashish; Shyamkumar, Nidugala Keshava; Coenen, Sandra; De Gottardi, Andrea; Majumdar, Avik; Onali, ...
Journal:
Hepatology
Issue:
Volume 71:Issue 2(2020)
Page Start:
658
Record Type:
Journal Article
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5. Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation. Issue 4 (21st April 2020)

Authors:
Čechová, Anna; Altassan, Ruqaiah; Borgel, Delphine; Bruneel, Arnaud; Correia, Joana; Girard, Muriel; Harroche, Annie; Kiec‐Wilk, Beata; Mohnike, Klaus; Pascreau, Tiffany; Pawliński, Łukasz; Radenkovic, Silvia; Vuillaumier‐Barrot, Sandrine; Aldamiz‐Echevarria, Luis; Couce, Maria Luz; Martins, Esme...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
671
Record Type:
Journal Article
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6. Cystic Fibrosis–related Liver Disease: Research Challenges and Future Perspectives. Issue 4 (October 2017)

Authors:
Debray, Dominique; Narkewicz, Michael R.; Bodewes, Frank A.J.A.; Colombo, Carla; Housset, Chantal; de Jonge, Hugo R.; Jonker, Johan W.; Kelly, Deirdre A.; Ling, Simon C.; Poynard, Thierry; Sogni, Philippe; Trauner, Michael; Witters, Peter; Baumann, Ulrich; Wilschanski, Michael; Verkade, Henkjan J.
Journal:
Journal of pediatric gastroenterology and nutrition
Issue:
Volume 65:Issue 4(2017)
Page Start:
Record Type:
Journal Article
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7. Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (8th August 2016)

Authors:
Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
759
Record Type:
Journal Article
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9. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. Issue 4 (14th July 2021)

Authors:
Rapp, Christina K.; Van Dijck, Ine; Laugwitz, Lucia; Boon, Mieke; Briassoulis, George; Ilia, Stavroula; Kammer, Birgit; Reu, Simone; Hornung, Stefanie; Buchert, Rebecca; Sofan, Linda; Froukh, Tawfiq; Witters, Peter; Rymen, Daisy; Haack, Tobias B.; Proesmans, Marijke; Griese, Matthias
Journal:
Clinical genetics
Issue:
Volume 100:Issue 4(2021)
Page Start:
453
Record Type:
Journal Article
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10. Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association. Issue 2 (29th January 2023)

Authors:
Alharbi, Hana; Daniel, Earnest James Paul; Thies, Jenny; Chang, Irene; Goldner, Dana L.; Ng, Bobby G.; Witters, Peter; Aqul, Amal; Velez‐Bartolomei, Frances; Enns, Gregory M.; Hsu, Evelyn; Kichula, Elizabeth; Lee, Esther; Lourenco, Charles; Poskanzer, Sheri A.; Rasmussen, Sara; Saarela, Katelyn; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
300
Record Type:
Journal Article
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