Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Autor: Nießl C; Institute for Medical Information Processing, Biometry and Epidemiology (IBE), Working group 'Biometry in Molecular Medicine', Ludwig-Maximilians-University of Munich, Marchoninistr. 15, 81377 Munich, Germany. Electronic address: cniessl@ibe.med.uni-muenchen.de., Boulesteix AL; Institute for Medical Information Processing, Biometry and Epidemiology (IBE), Working group 'Biometry in Molecular Medicine', Ludwig-Maximilians-University of Munich, Marchoninistr. 15, 81377 Munich, Germany. Electronic address: boulesteix@ibe.med.uni-muenchen.de., Oh J; Department of Pediatrics, Pediatric Nephrology, University Center Hamburg/Eppendorf, Martinistr. 52, 20251 Hamburg, Germany. Electronic address: j.oh@uke.de., Palm K; Department of Pediatrics, University Hospital Magdeburg, Leipzigerstr. 44, 39120 Magdeburg, Germany. Electronic address: katja.palm@med.ovgu.de., Schlingmann P; Department of General Pediatrics, Pediatric Nephrology, University Children's Hospital Münster, Waldeyerstr. 22, 48149 Münster, Germany. Electronic address: karlpeter.schlingmann@ukmuenster.de., Wygoda S; KFH Pediatric Kidney Center Leipzig, Delitzscherstr. 14, 04129 Leipzig, Germany. Electronic address: simone.wygoda@kfh.de., Haffner D; Department of Pediatrics, Department of Pediatric Kidney, Liver and Metabolic Diseases, Medical School, Carl-Neuberg-str. 1, 30625 Hannover, Germany. Electronic address: haffner.dieter@mh-hannover.de., Wühl E; Department of Pediatrics I, Division of Pediatric Nephrology, University Children 's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: elke.wuehl@med.uni-heidelberg.de., Tönshoff B; Department of Pediatrics I, Division of Pediatric Nephrology, University Children 's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Buescher A; Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Hufelandstr. 55, 45147 Essen, Germany. Electronic address: anja.buescher@uk-essen.de., Billing H; Department of Pediatrics, Riedstraße 12, 74321 Bietigheim-Bissingen, Germany. Electronic address: heiko.billing@rkh-kliniken.de., Hoppe B; KNZ - Kindernierenzentrum Bonn, Im Mühlenbach 2B, 53127 Bonn, Germany. Electronic address: bernd.hoppe@knz-bonn.de., Zirngibl M; Department of General Pediatrics/Hematology/Oncology, University Children's Hospital, Hoppe-Seyler-Str. 1, 72076 Tübingen, Germany. Electronic address: Matthias.zirngibl@med.uni-tuebingen.de., Kettwig M; Department of Pediatrics, University Hospital Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany. Electronic address: Matthias.kettwig@med.uni-goettingen.de., Moeller K; Department of Pediatrics, Gesundheit Nord, Klinikverbund Bremen, Kürfürstenallee 130, 28211 Bremen, Germany. Electronic address: kristina.moeller@klinikum-bremen-ldw.de., Acham-Roschitz B; Department of Pediatrics, Medical University of Graz, Auenbruggerplatz 34, 8036 Graz, Austria. Electronic address: birigt.acham-roschitz@medunigraz.at., Arbeiter K; Pediatric Dialysis Unit, Clinic of Pediatric and Adolescent Medicine, Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria. Electronic address: Klaus.arbeiter@meduniwien.ac.at., Bald M; Department of Pediatric Nephrology Olgahospital, Clinics of Stuttgart, Kriegsbergstr. 62, 70174 Stuttgart, Germany. Electronic address: m.bald@klinikum-stuttgart.de., Benz M; Pediatric Nephrology Dachau, Schleißheimerstr. 12, 85221 Dachau, Germany. Electronic address: m.benz@kid-benz.de., Galiano M; Pediatric Nephrology, Department of Pediatrics and Adolescent Medicine, University Hospital of Erlangen, Loschgestr. 15, 91052 Erlangen, Germany. Electronic address: Matthias.galiano@uk-erlangen.de., John-Kroegel U; Department of Pediatric Nephrology, University Children's hospital Jena, Kastanienstr. 1, 07747 Jena, Germany. Electronic address: Ulrike.john-kroegel@med.uni-jena.de., Klaus G; Pediatric Rheumatology, University Children's hospital, Philipps University of Marburg, Baldingerstr, 35043 Marburg, Germany. Electronic address: Guenter.klaus@kfh.de., Marx-Berger D; Children's Hospital of Eastern Switzerland, Claudiusstr. 6, 9006 St. Gallen, Switzerland. Electronic address: Daniela.marx-berger@kispisg.ch., Moser K; Children's Hospital Aschaffenburg, Am Hasenkopf 1, 63739 Aschaffenburg, Germany. Electronic address: katja.moser@klinikum-ab-alz.de., Mueller D; Department of Neonatology and Pediatrics, Gesundheit Nordhessen, Mönchebergstraße 41-43, 34125 Kassel, Germany. Electronic address: dirk.mueller@gnh.net., Patzer L; Department of Pediatric Nephrology, Department of Pediatrics, Krankenhaus Halle Saale, Mauerstr. 5, 06110 Halle Saale, Germany. Electronic address: L.patzer@krankenhaus-halle-saale.de., Pohl M; Department of Pediatric Nephrology, Department of Pediatrics, University Children 's Hospital Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany. Electronic address: martin.pohl@uniklinik-freiburg.de., Seitz B; KFH Pediatric Kidney Center Munich, Parzivalstr. 16, 80804 Munich, Germany. Electronic address: Barbara.seitz@kfh.de., Treikauskas U; Department of Pediatric Nephrology, Department of Pediatrics, RoMed Kliniken, Pettenkoferstr. 10, 83022 Rosenheim, Germany. Electronic address: Ulrike.treikauskas@ro-med.de., von Vigier RO; Pediatric Clinic, Wildermeth Children's Hospital, Vogelsang 84, 2502 Biel-Bienne, Switzerland. Electronic address: rodo.vonVigier@szb-chb.ch., Gahl WA; National Genome Research Institute (NHGRI), National Institutes of Health, Medical Genetics Branch, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: gahlw@mail.nih.gov., Hohenfellner K; Department of Pediatric Nephrology, Department of Pediatrics, RoMed Kliniken, Pettenkoferstr. 10, 83022 Rosenheim, Germany. Electronic address: Katharina.hohenfellner@ro-med.de.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2022 Aug; Vol. 136 (4), pp. 268-273. Date of Electronic Publication: 2022 Jul 02.

Management of bone disease in cystinosis: Statement from an international conference.

Autor: Hohenfellner K; Ro Med Kliniken, Pediatric Nephrology, Rosenheim, Germany., Rauch F; Shriners Hospital for Children, McGill University, Montreal, Canada., Ariceta G; Service of Pediatric Nephrology, University Hospital Vall d' Hebron, Barcelona, Spain., Awan A; Department of Nephrology, Children's University Hospital, Dublin, Ireland., Bacchetta J; Référence Center for Rare Renal Diseases, Hôpital Femme-Mère-Enfant, Bron, France., Bergmann C; Department of Medicine, University Hospital Freiburg, Freiburg, Germany., Bechtold S; Division of Pediatric Endocrinology, Children's Hospital and Polyclinic iSPZ, Dr. v. Haunerschen Kinderspital, University Hospital Munich, Munich, Germany., Cassidy N; Department of Orthopaedic Surgery, Children's University Hospital, Dublin, Ireland., Deschenes G; Department of Pediatric Nephrology, Hôpital Robert-Debré and University of Paris Diderot, Paris, France., Elenberg E; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas., Gahl WA; National Human Genome Research Institute, National Institutes of Health Undiagnosed Diseases Program, Bethesda, Maryland., Greil O; Department of Diagnostic and Interventional Radiology, Klinikum Traunstein, Traunstein, Germany., Harms E; Children's University Hospital Muenster, Muenster, Germany., Herzig N; Schoen Clinic Munich Harlaching, Specialist Centre for Paediatric and Neuro-Orthopaedics, Munich, Germany., Hoppe B; Division of Pediatric Nephrology, University Children's Hospital, Bonn, Germany., Koeppl C; Kliniken Südostbayern AG, Sozialpädiatrisches Zentrum, Traunstein, Germany., Lewis MA; Department of Nephrology, Children's University Hospital, Dublin, Ireland., Levtchenko E; Department of Pediatrics & Development and Regeneration, University Hospitals Leuven & Katholieke Universiteit Leuven, Leuven, Belgium., Nesterova G; National Institutes of Health, National Human Genome Research Institute (NHGRI), Bethesda, Maryland., Santos F; Hospital Universitario Central de Asturias, Pediatría, Oviedo, Spain., Schlingmann KP; Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany., Servais A; Reference Center of Inherited Metabolic Diseases, Nephrology Unit, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt., Steidle G; Kliniken Südostbayern AG, Sozialpädiatrisches Zentrum, Traunstein, Germany., Sweeney C; Department of Nephrology, Children's University Hospital, Dublin, Ireland., Treikauskas U; Department of Pediatrics, Department of Pediatric Nephrology, Ro-Med Kliniken, Rosenheim, Germany., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Tsygin A; Department of Nephrology, National Medical and Research Center for Children's Health, Moscow, Russia., Veys K; Department of Pediatrics & Development and Regeneration, University Hospitals Leuven & Katholieke Universiteit Leuven, Leuven, Belgium., V Vigier R; Pediatric Clinic, Wildermeth Children's Hospital, Biel-Bienne, Switzerland., Zustin J; Institute of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 1019-1029. Date of Electronic Publication: 2019 Aug 05.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.

Autor: Müller, Sophia¹, Kluck, Rika¹, Jagodzinski, Celina¹, Brügelmann, Malina¹, Hohenfellner, Katharina², Büscher, Anja³, Kemper, Markus J.⁴, Fröde, Kerstin¹, Oh, Jun⁵, Billing, Heiko⁶, Thumfart, Julia⁷, Weber, Lutz T.⁸, Acham-Roschitz, Birgit⁹, Arbeiter, Klaus¹⁰, Tönshoff, Burkhard¹¹, Hagenberg, Martina¹², Pavičić, Leo¹³, Haffner, Dieter¹, Zivicnjak, Miroslav¹ zivicnjak.miroslav@mh-hannover.de

Publikováno v: Pediatric Nephrology. Dec2023, Vol. 38 Issue 12, p3989-3999. 11p.

Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.

Autor: Stabouli S; 1st Department of Pediatrics, Aristotle University Thessaloniki, Hippokratio Hospital, 49 Konstantinoupoleos Str, 54642, Thessaloniki, Greece. sstaboul@auth.gr., Sommer A; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Kraft S; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Schweer K; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany., Bethe D; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany., Bertholet-Thomas A; Pediatric Nephrology, Rheumatology and Dermatology Unit, Reference Center for Rare Renal Diseases, Hospices Civils de Lyon & INSERM1033 Research Unit, Hospital Femme Mere Enfant, Lyon 1 University, Lyon, France., Batte S; Children's Renal & Urology Unit, Queens Medical Centre, Nottingham, UK., Ariceta G; Department of Pediatric Nephrology, Hospital Vall d´Hebron, University Autonomous of Barcelona, Barcelona, Spain., Brengmann S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Bacchetta J; Pediatric Nephrology, Rheumatology and Dermatology Unit, Reference Center for Rare Renal Diseases, Hospices Civils de Lyon & INSERM1033 Research Unit, Hospital Femme Mere Enfant, Lyon 1 University, Lyon, France., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy., Levtchenko E; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey., Willem L; Department of Child Nephrology and Organ Transplantation, Leuven University Hospital, Louvain, Belgium., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Oh J; Department of Pediatric Nephrology, University Hamburg-Eppendorf, Hamburg, Germany.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Oct; Vol. 39 (10), pp. 2861-2874. Date of Electronic Publication: 2024 Mar 22.

Extrarenal complications of cystinosis.

Autor: Topaloglu R; Hacettepe University, School of Medicine, Department of Pediatric Nephrology, Ankara, Türkiye. rezantopaloglu@hacettepe.edu.tr.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Aug; Vol. 39 (8), pp. 2283-2292. Date of Electronic Publication: 2023 Dec 21.