Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Autor: Chkioua L; Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, Street Avicenne, 5000, Monastir, Tunisia. chkioualatifa2002@yahoo.fr., Amri Y; Biochemistry Laboratory (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Saheli C; Biochemistry Laboratory (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Mili W; Ophtalmic Department, Farhat Hached Hospital, Sousse, Tunisia., Mabrouk S; Pediatric Department, Sahloul Hospital, Sousse, Tunisia., Chabchoub I; Pediatric Department, Hedi Chaker Hospital, Sfax, Tunisia., Boudabous H; Pediatric Department, LaRabta Hospital, Tunis, Tunisia., Azzouz WB; Pediatric Department, LaRabta Hospital, Tunis, Tunisia., Turkia HB; Pediatric Department, LaRabta Hospital, Tunis, Tunisia., Ferchichi S; Biochemistry Laboratory, Farhat Hached Hospital, Sousse, Tunisia., Tebib N; Pediatric Department, LaRabta Hospital, Tunis, Tunisia., Massoud T; Biochemistry Laboratory (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia., Ghorbel M; Ophtalmic Department, Farhat Hached Hospital, Sousse, Tunisia., Laradi S; The Auvergne-Rhône-Alpes Regional Branch of the French National Blood System EFS/GIMAP, EA 3064, 42100, Saint Etienne, France.

Publikováno v: Diagnostic pathology [Diagn Pathol] 2022 May 06; Vol. 17 (1), pp. 44. Date of Electronic Publication: 2022 May 06.

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

Autor: Mistry PK; Yale University School of Medicine, New Haven, CT, USA., Balwani M; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Baris HN; The Genetics Institute, Rambam Health Care Campus, The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Turkia HB; Hôpital La Rabta, Tunis, Tunisia., Burrow TA; College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Charrow J; Northwestern University Feinberg School of Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Cox GF; Editas, Cambridge, MA, USA (formerly Sanofi Genzyme), Cambridge, MA, USA., Danda S; Christian Medical College, Vellore, India., Dragosky M; IMAI-Research, Buenos Aires, Argentina., Drelichman G; Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., El-Beshlawy A; Pediatric Hematology, Cairo University, Egypt., Fraga C; HDES Hospital, Ponta Delgada, Açores, Portugal., Freisens S; Sanofi Genzyme, Cambridge, MA, USA., Gaemers S; Sanofi Genzyme, Cambridge, MA, USA., Hadjiev E; University Hospital Alexandrovska, Sofia, Bulgaria., Kishnani PS; Duke University School of Medicine, Department of Pediatrics, Durham, NC, USA., Lukina E; National Research Center for Hematology, Moscow, Russia., Maison-Blanche P; Bichat University Hospital, Paris, France., Martins AM; Universidade Federal de São Paulo, São Paulo, SP, Brazil., Pastores G; New York University School of Medicine, New York, NY, USA., Petakov M; Clinical Center of Serbia, University of Belgrade School of Medicine, Belgrade, Serbia., Peterschmitt MJ; Sanofi Genzyme, Cambridge, MA, USA., Rosenbaum H; Rambam Medical Center, Haifa, Israel., Rosenbloom B; Cedars-Sinai, Tower Hematology Oncology, Beverly Hills, CA, USA., Underhill LH; Sanofi Genzyme, Cambridge, MA, USA., Cox TM; University of Cambridge, Department of Medicine, Box 157, Level 5, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: tmc12@medschl.cam.ac.uk.

Publikováno v: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2019 Jul; Vol. 77, pp. 101-102. Date of Electronic Publication: 2019 Apr 09.

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.

Autor: Mistry PK; Yale University School of Medicine, New Haven, CT, USA., Balwani M; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Baris HN; The Genetics Institute, Rambam Health Care Campus, The Ruth and Bruce Rappaport Faculty of Medicine, Technion, - Israel Institute of Technology, Haifa, Israel., Turkia HB; Hôpital La Rabta, Tunis, Tunisia., Burrow TA; College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Charrow J; Northwestern University Feinberg School of Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Cox GF; Editas, Cambridge, MA, USA (formerly Sanofi Genzyme, Cambridge, MA, USA)., Danda S; Christian Medical College, Vellore, India., Dragosky M; IMAI-Research, Buenos Aires, Argentina., Drelichman G; Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., El-Beshlawy A; Pediatric Hematology, Cairo University, Egypt., Fraga C; HDES Hospital, Ponta Delgada, Açores, Portugal., Freisens S; Sanofi Genzyme, Cambridge, MA, USA., Gaemers S; Sanofi Genzyme, Cambridge, MA, USA., Hadjiev E; University Hospital Alexandrovska, Sofia, Bulgaria., Kishnani PS; Duke University School of Medicine, Department of Pediatrics, Durham, NC, USA., Lukina E; National Research Center for Hematology, Moscow, Russia., Maison-Blanche P; Bichat University Hospital, Paris, France., Martins AM; Universidade Federal de São Paulo, São Paulo, SP, Brazil., Pastores G; New York University School of Medicine, New York, NY, USA., Petakov M; Clinical Center of Serbia, University of Belgrade School of Medicine, Belgrade, Serbia., Peterschmitt MJ; Sanofi Genzyme, Cambridge, MA, USA., Rosenbaum H; Rambam Medical Center, Haifa, Israel., Rosenbloom B; Cedars-Sinai, Tower Hematology Oncology, Beverly Hills, CA, USA., Underhill LH; Sanofi Genzyme, Cambridge, MA, USA., Cox TM; University of Cambridge, Department of Medicine, Box 157, Level 5, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: tmc12@medschl.cam.ac.uk.

Publikováno v: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2018 Jul; Vol. 71, pp. 71-74. Date of Electronic Publication: 2018 Apr 09.

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

Autor: Zimran A; Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address: azimran@gmail.com., Elstein D; Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel. Electronic address: delstein-c@shire.com., Gonzalez DE; Instituto Privado de Hematología e Investigación Clínica (IPHIC), Asunción, Paraguay. Electronic address: gderlis@conexion.com.py., Lukina EA; Department of Orphan Diseases, National Research Center for Hematology, Moscow, Russia. Electronic address: elenalukina02@gmail.com., Qin Y; Shire, Lexington, MA, USA. Electronic address: yqin@shire.com., Dinh Q; Shire, Lexington, MA, USA. Electronic address: qdinh@shire.com., Turkia HB; Paediatric Department, La Rabta Hospital, Tunis, Tunisia. Electronic address: hadhami.baili@laposte.net.

Publikováno v: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2018 Feb; Vol. 68, pp. 153-159. Date of Electronic Publication: 2016 Oct 21.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Autor: Cassiman D; Metabolic Center, University of Leuven, Leuven, Belgium., Packman S; University of California San Francisco, San Francisco, CA, United States., Bembi B; Academic Medical Centre Hospital of Udine, Udine, Italy., Turkia HB; La Rabta Hospital, Tunis, Tunisia., Al-Sayed M; King Faisal Specialist Hospital& Research Center, Riyadh, Saudi Arabia., Schiff M; University of Paris-Diderot, APHP and INSERM U1141, Reference Center for Inborn Errors of Metabolism, Robert-Debré Hospital, Paris, France., Imrie J; Niemann-Pick Disease Group (UK), Tyne and Wear, UK., Mabe P; Hospital Dr. Exequiel González Cortés, Santiago, Chile., Takahashi T; Akita University School of Medicine, Akita, Japan., Mengel KE; Villa Metabolica, Center of Pediatric and Adolescents Medicine, University Medical Center, Mainz, Germany., Giugliani R; Medical Genetics Service, HCPA, Dep. Genetics, UFRGS and INAGEMP, Porto Alegre, Brazil., Cox GF; Clinical Development, Sanofi Genzyme, Cambridge, MA, United States. Electronic address: gerald.cox@genzyme.com.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2016 Jul; Vol. 118 (3), pp. 206-213. Date of Electronic Publication: 2016 May 11.