Saskia B. Wortmann
AuthID: R-00F-NJS
1
TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Full Text
AUTHORS: del Cano Ochoa, Francisco; Ng, Bobby G.; Rubio del Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marcal; Rymen, Daisy; Sanchez Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramon Maiques, Santiago;
PUBLISHED: 2023, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTHORS: del Cano Ochoa, Francisco; Ng, Bobby G.; Rubio del Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marcal; Rymen, Daisy; Sanchez Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramon Maiques, Santiago;
PUBLISHED: 2023, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
AUTHORS: Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 9
AUTHORS: Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 9
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Galactokinase deficiency: lessons from the GalNet registry
AUTHORS: Estela E Rubio Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Moeslinger; Luz L Couce; Aurelie Empain; Can Ficicioglu; Natalia Julia Palacios; Mariela M D De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl Buergi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
AUTHORS: Estela E Rubio Gozalbo; Britt Derks; Anibh Martin Das; Uta Meyer; Dorothea Moeslinger; Luz L Couce; Aurelie Empain; Can Ficicioglu; Natalia Julia Palacios; Mariela M D De Los Santos De Pelegrin; Isabel A Rivera; Sabine Scholl Buergi; Annet M Bosch; David Cassiman; Didem Demirbas; Matthias Gautschi; Ina Knerr; Philippe Labrune; Anastasia Skouma; Patrick Verloo; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids Full Text
AUTHORS: Saskia B Wortmann; Marc Espeel; Ligia Almeida; Annette Reimer; Dennis Bosboom; Frank Roels; Arjan P M de Brouwer; Ron A Wevers;
PUBLISHED: 2015, SOURCE: Workshop on Diagnostic Approach, and Classification of IEM Affecting the Synthesis and Catabolism of Complex Lipids in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 1
AUTHORS: Saskia B Wortmann; Marc Espeel; Ligia Almeida; Annette Reimer; Dennis Bosboom; Frank Roels; Arjan P M de Brouwer; Ron A Wevers;
PUBLISHED: 2015, SOURCE: Workshop on Diagnostic Approach, and Classification of IEM Affecting the Synthesis and Catabolism of Complex Lipids in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 1
