Saskia B. Wortmann
AuthID: R-00F-NJS
1
TÃTULO: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2023, FONTE: GENETICS IN MEDICINE, VOLUME: 25, NÚMERO: 6
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2023, FONTE: GENETICS IN MEDICINE, VOLUME: 25, NÚMERO: 6
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Full Text
AUTORES: 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;
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTORES: 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;
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXADO EM: Scopus WOS
Scopus WOS3
TÃTULO: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, NÚMERO: 9
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, NÚMERO: 9
INDEXADO EM: Scopus WOS
Scopus WOS4
TÃTULO: Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids Full Text
AUTORES: Saskia B Wortmann; Marc Espeel; Ligia Almeida; Annette Reimer; Dennis Bosboom; Frank Roels; Arjan P M de Brouwer; Ron A Wevers;
PUBLICAÇÃO: 2015, FONTE: Workshop on Diagnostic Approach, and Classification of IEM Affecting the Synthesis and Catabolism of Complex Lipids in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, NÚMERO: 1
AUTORES: Saskia B Wortmann; Marc Espeel; Ligia Almeida; Annette Reimer; Dennis Bosboom; Frank Roels; Arjan P M de Brouwer; Ron A Wevers;
PUBLICAÇÃO: 2015, FONTE: Workshop on Diagnostic Approach, and Classification of IEM Affecting the Synthesis and Catabolism of Complex Lipids in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, NÚMERO: 1
