Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Muschol NM"'
Autor:
Borgwardt L, Ceravolo F, Anna Tylki-Szymańska, Cattaneo F, Muschol Nm, Mercedes Gil-Campos, Nathalie Guffon, Julia B. Hennermann, Lund Am
Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. Intracellular accumulation of mannose-rich oligosaccharides leads to a continuum of various heterogeneous clinical symptoms. Velm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9caa78b00aeedcf37e453bc9ef3d829
https://doi.org/10.21203/rs.2.19376/v1
https://doi.org/10.21203/rs.2.19376/v1
Autor:
Ammer LS; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Paediatric Intensive Care and Neonatology, Altona Children's Hospital, 22763 Hamburg, Germany., Täuber K; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Perez A; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Dohrmann T; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Denecke J; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Santer R; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Blümlein U; Department of Paediatrics, Carl-Thiem-Klinikum gGmbH, 03048 Cottbus, Germany., Ozga AK; Institute of Medical Biometry and Epidemiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Pohl S; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Osteology and Biomechanics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Muschol NM; International Centre for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
Journal of clinical medicine [J Clin Med] 2023 Jun 18; Vol. 12 (12). Date of Electronic Publication: 2023 Jun 18.
Autor:
Wölfel EM; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.; Interdisciplinary Competence Center for Interface Research (ICCIR), Lottestr. 55A, Hamburg, Germany., von Kroge S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany., Matthies L; Department of Oral and Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Koehne T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Petz K; Department of Periodontics, Preventive and Restorative Dentistry, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Beikler T; Department of Periodontics, Preventive and Restorative Dentistry, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Schmid-Herrmann CU; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Kahl-Nieke B; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Tsiakas K; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Muschol NM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Herrmann J; Department of Diagnostic and Interventional Radiology and Nuclear Medicine, Section of Pediatric Radiology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Busse B; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.; Interdisciplinary Competence Center for Interface Research (ICCIR), Lottestr. 55A, Hamburg, Germany., Amling M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany., Rolvien T; Division of Orthopaedics, Department of Trauma and Orthopaedic Surgery, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Jandl NM; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.; Division of Orthopaedics, Department of Trauma and Orthopaedic Surgery, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany., Barvencik F; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany. fbarvencik@uke.de.
Publikováno v:
Calcified tissue international [Calcif Tissue Int] 2023 Mar; Vol. 112 (3), pp. 308-319. Date of Electronic Publication: 2022 Nov 21.
Autor:
Schmid-Herrmann CU; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Muschol NM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Fuhrmann VU; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Koehn AF; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lezius S; Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kahl-Nieke B; Department of Orthodontics, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Koehne T; Department of Orthodontics, University Medical Center Leipzig, Leipzig, Germany.
Publikováno v:
International journal of paediatric dentistry [Int J Paediatr Dent] 2022 Sep; Vol. 32 (5), pp. 737-744. Date of Electronic Publication: 2022 Apr 02.
Autor:
Ammer LS; International Center for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Muschol NM; International Center for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Santer R; International Center for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Lang A; International Center for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Breyer SR; International Center for Lysosomal Disorders (ICLD), Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Sasu PB; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Petzoldt M; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Dohrmann T; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
Journal of clinical medicine [J Clin Med] 2022 Jun 24; Vol. 11 (13). Date of Electronic Publication: 2022 Jun 24.
Autor:
Di Lorenzo G; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Napoli, Italy., Westermann LM; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yorgan TA; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Stürznickel J; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ludwig NF; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Ammer LS; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Baranowsky A; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Trauma and Orthopedic Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ahmadi S; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Pourbarkhordariesfandabadi E; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Breyer SR; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Pediatric Orthopedics, Children's Hospital Altona, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Board TN; The Centre for Hip Surgery, Wrightington, Wigan and Leigh NHS Trust, Appley Bridge, Wigan, UK., Foster A; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Mercer J; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Tylee K; Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK., Velho RV; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schweizer M; Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Renné T; Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Braulke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Randon DN; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Sperb-Ludwig F; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., de Camargo Pinto LL; Children's Hospital Joana de Gusmão, Florianópolis, Brazil., Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, University of Campinas, Campinas, Brazil., Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, University of Campinas, Campinas, Brazil., Amling M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schwartz IVD; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Clinical Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Rolvien T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Danyukova T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. s.pohl@uke.de.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. s.pohl@uke.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2369-2377. Date of Electronic Publication: 2021 Aug 02.
Autor:
Dogterom EJ; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Skeletal Pathobiochemistry, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Meijden JCV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rizopoulos D; Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Ploeg ATV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. e.oussoren@erasmusmc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2047-2056. Date of Electronic Publication: 2021 Jun 25.
Autor:
Ammer LS; Department of Paediatrics, International Centre for Lysosomal Disorders (ICLD), University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Dohrmann T; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Muschol NM; Department of Paediatrics, International Centre for Lysosomal Disorders (ICLD), University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Lang A; Department of Paediatrics, International Centre for Lysosomal Disorders (ICLD), University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Breyer SR; Department of Paediatrics, International Centre for Lysosomal Disorders (ICLD), University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Paediatric Orthopaedics, Children's Hospital Altona, 22763 Hamburg, Germany.; Department of Orthopaedics, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Ozga AK; Department of Medical Biometry and Epidemiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany., Petzoldt M; Department of Anaesthesiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
Journal of clinical medicine [J Clin Med] 2021 Aug 10; Vol. 10 (16). Date of Electronic Publication: 2021 Aug 10.
Autor:
Breyer SR; Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany. sandra.r.breyer@gmail.com.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. sandra.r.breyer@gmail.com.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. sandra.r.breyer@gmail.com., Vettorazzi E; Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Schmitz L; Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Gulati A; Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., von Cossel KM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Spiro A; Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Rupprecht M; Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Stuecker R; Department of Pediatric Orthopedics, Children's Hospital Altona, Bleickenallee 38, 22763, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
Publikováno v:
Journal of orthopaedic surgery and research [J Orthop Surg Res] 2021 Mar 19; Vol. 16 (1), pp. 201. Date of Electronic Publication: 2021 Mar 19.
Autor:
Ammer LS; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Breyer SR; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Pediatric Orthopedics, Children's Hospital Altona, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Aries C; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Perez A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Petzoldt M; Department of Anesthesiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schrum J; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Müller I; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Muschol NM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Jan 14; Vol. 26, pp. 100704. Date of Electronic Publication: 2021 Jan 14 (Print Publication: 2021).