Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Luise Sophie Ammer"'
Autor:
Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria Muschol
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 12, p 4114 (2023)
Mucolipidosis type II (MLII), an ultra-rare lysosomal storage disorder, manifests as a fatal multi-systemic disease. Mental inhibition and progressive neurodegeneration are commonly reported disease manifestations. Nevertheless, longitudinal data on
Externí odkaz:
https://doaj.org/article/c327a5c47b394cf5bd9d6ca4af22a414
Autor:
Luise Sophie Ammer, Nicole Maria Muschol, René Santer, Annika Lang, Sandra Rafaela Breyer, Phillip Brenya Sasu, Martin Petzoldt, Thorsten Dohrmann
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 13, p 3650 (2022)
Mucolipidosis (ML) type II, intermediate, and III are lysosomal storage disorders with progressive multiorgan manifestations predisposing patients to a high risk of perioperative morbidity. The aims of the study were to systematically assess disease
Externí odkaz:
https://doaj.org/article/2f15937073204bef97eb8a1df9537527
Autor:
Luise Sophie Ammer, Sandra Pohl, Sandra Rafaela Breyer, Charlotte Aries, Jonas Denecke, Anna Perez, Martin Petzoldt, Johanna Schrum, Ingo Müller, Nicole Maria Muschol
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100704- (2021)
Background: Mucolipidosis type II (MLII) is an ultra-rare lysosomal storage disorder caused by defective lysosomal enzyme trafficking. Clinical hallmarks are craniofacial dysmorphia, cardiorespiratory dysfunction, hepatosplenomegaly, skeletal deformi
Externí odkaz:
https://doaj.org/article/ce287ca7fa4049499872f5be59d54ffc
Autor:
Luise Sophie Ammer, Thorsten Dohrmann, Nicole Maria Muschol, Annika Lang, Sandra Rafaela Breyer, Ann-Kathrin Ozga, Martin Petzoldt
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 16, p 3518 (2021)
Patients with mucopolysaccharidoses (MPS) frequently require anaesthesia for diagnostic or surgical interventions and thereby experience high morbidity. This study aimed to develop a multivariable prediction model for anaesthesia-related complication
Externí odkaz:
https://doaj.org/article/edaa3cd8481a4eff963678e02a3d6a19
Autor:
Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 3, p 728 (2020)
Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology a
Externí odkaz:
https://doaj.org/article/10223d64e352427393b343be6e88d853
Autor:
Muschol, Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 12; Pages: 4114
Mucolipidosis type II (MLII), an ultra-rare lysosomal storage disorder, manifests as a fatal multi-systemic disease. Mental inhibition and progressive neurodegeneration are commonly reported disease manifestations. Nevertheless, longitudinal data on