Zobrazeno 1 - 10
of 14 213
pro vyhledávání: '"LYSOSOMAL STORAGE DISEASES"'
Autor:
Collardeau-Frachon S; Institut de pathologie des hospices civils de Lyon, groupement hospitalier Est, 59, boulevard Pinel, 69677 Bron cedex, France. Electronic address: sophie.collardeau-frachon@chu-lyon.fr.
Publikováno v:
Annales de pathologie [Ann Pathol] 2024 Nov; Vol. 44 (6), pp. 432-452. Date of Electronic Publication: 2024 Oct 02.
Autor:
Ługowska A; Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.
Publikováno v:
Cells [Cells] 2024 Oct 08; Vol. 13 (19). Date of Electronic Publication: 2024 Oct 08.
Autor:
Corazolla EM; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Eskes ECB; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Veldwijk J; Erasmus School of Health Policy and Management, Erasmus University Rotterdam, Rotterdam, The Netherlands.; Erasmus Choice Modelling Centre, Erasmus University Rotterdam, Rotterdam, The Netherlands., Brands MMMG; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Dekker H; The Dutch Patient Association for Inherited Metabolic Diseases (VKS), Zwolle, The Netherlands., van de Mheen E; Fabry Support and Information Group the Netherlands (FSIGN), Drachten, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Hollak CEM; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Sjouke B; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands. barbara.sjouke@radboudumc.nl.; Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands. barbara.sjouke@radboudumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 03; Vol. 19 (1), pp. 367. Date of Electronic Publication: 2024 Oct 03.
Autor:
Vernet Machado Bressan Wilke M; Department of Pathology and Immunology, Washington University in St. Louis, MO, United States of America., Goldstein J; University of North Carolina at Chapel Hill, Chapel Hill, NC, United States of America., Groopman E; Children's National Hospital, Washington, DC, United States of America., Mohan S; University of North Carolina at Chapel Hill, Chapel Hill, NC, United States of America., Waddell A; University of North Carolina at Chapel Hill, Chapel Hill, NC, United States of America., Fernandez R; American College of Genetics and Genomics, Bethesda, MD, United States of America., Chen H; Prevention Genetics, part of Exact Sciences, Marshfield, WI, United States of America., Bali D; Duke University Health System, Durham, NC, United States of America., Baudet H; University of North Carolina at Chapel Hill, Chapel Hill, NC, United States of America., Clarke L; University of British Columbia, Vancouver, Canada., Hung C; Invitae, San Francisco, CA, United States of America., Mao R; ARUP Laboratories, Salt Lake City, UT, United States of America; University of Utah, Salt Lake City, UT, United States of America., Yuzyuk T; ARUP Laboratories, Salt Lake City, UT, United States of America; University of Utah, Salt Lake City, UT, United States of America., Craigen WJ; Baylor College of Medicine, Houston, TX, United States of America., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States of America; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, United States of America. Electronic address: vairo.filippo@mayo.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108572. Date of Electronic Publication: 2024 Sep 05.
Autor:
Derome M; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France., Denard J; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France., Marinello M; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France., Levade T; Unité mixte de recherche Inserm 1037, CNRS 5071, Université Toulouse III-Paul Sabatier, Centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France - Laboratoire de biochimie, Institut fédératif de biologie, CHU Purpan, Toulouse, France., Boespflug-Tanguy O; Université Paris Cité, Inserm, UMR 1141 NeuroDiderot, Paris, France ; AP-HP, Service de neurologie pédiatrique, Hôpital Robert Debré et Hôpital Trousseau, Paris, France., Buj-Bello A; Généthon, Évry, France - Université Paris-Saclay, Univ Évry, Inserm, Généthon, Integrare research unit UMR_S951, Évry, France.
Publikováno v:
Medecine sciences : M/S [Med Sci (Paris)] 2024 Nov; Vol. 40 Hors série n° 1, pp. 52-55. Date of Electronic Publication: 2024 Nov 18.
Autor:
Groopman E; Children's National Hospital, Washington, DC, USA., Mohan S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Waddell A; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Wilke M; Mayo Clinic, Rochester, MN, USA., Fernandez R; American College of Genetics and Genomics, Bethesda, MD, USA., Weaver M; American College of Genetics and Genomics, Bethesda, MD, USA., Chen H; PreventionGenetics/Exact Sciences, Marshfield, WI, USA., Liu H; Revvity, Pittsburgh, PA, USA., Bali D; Duke University Health System, Durham, NC, USA., Baudet H; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Clarke L; University of British Columbia, Vancouver, Canada., Hung C; Invitae, San Francisco, CA, USA., Mao R; ARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA., Pinto E Vairo F; Mayo Clinic, Rochester, MN, USA., Racacho L; Alberta Precision Laboratories, Alberta, Canada., Yuzyuk T; ARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA., Craigen WJ; Baylor College of Medicine, Houston, TX, USA., Goldstein J; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Electronic address: jennifer.goldstein@unc.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Nov; Vol. 143 (3), pp. 108593. Date of Electronic Publication: 2024 Oct 12.
Autor:
Chen Y; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Yang Y; Department of Physical and Chemical Analysis, Fujian Center for Disease Control and Prevention, Fuzhou, China., Zeng Y; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Lin Q; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Zhao P; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Mao B; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Qiu X; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Huang T; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Xu L; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China., Zhu W; Department of Data Information, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Publikováno v:
Clinical pediatrics [Clin Pediatr (Phila)] 2024 Oct; Vol. 63 (10), pp. 1364-1370. Date of Electronic Publication: 2023 Dec 22.
Autor:
Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy., Malvagia S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital IRCCS, Florence, Italy., la Marca G; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Parenti G; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy. Electronic address: brunetti@tigem.it.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Sep 04; Vol. 32 (9), pp. 2930-2938. Date of Electronic Publication: 2024 Jun 06.
Autor:
Darie-Ion L; Group of Biochemistry, Faculty of Chemistry, Alexandru Ioan Cuza University of Iasi, Iaşi, Romania., Petre BA; Group of Biochemistry, Faculty of Chemistry, Alexandru Ioan Cuza University of Iasi, Iaşi, Romania.; Laboratory of Proteomics, Center for Fundamental Research and Experimental Development in Translation Medicine-TRANSCEND, Regional Institute of Oncology, Iaşi, Romania.
Publikováno v:
Mass spectrometry reviews [Mass Spectrom Rev] 2024 Sep-Oct; Vol. 43 (5), pp. 1135-1149. Date of Electronic Publication: 2023 Aug 16.
Autor:
Beraza-Millor M; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, 01006, Vitoria-Gasteiz, Spain., Rodríguez-Castejón J; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, 01006, Vitoria-Gasteiz, Spain., Del Pozo-Rodríguez A; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, 01006, Vitoria-Gasteiz, Spain., Rodríguez-Gascón A; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, 01006, Vitoria-Gasteiz, Spain., Solinís MÁ; Pharmacokinetic, Nanotechnology and Gene Therapy Group (PharmaNanoGene), Faculty of Pharmacy, Centro de Investigación Lascaray Ikergunea, University of the Basque Country, UPV/EHU, Paseo de la Universidad 7, 01006, Vitoria-Gasteiz, Spain. marian.solinis@ehu.eus.; Bioaraba, Microbiology, Infectious Disease, Antimicrobial Agents and Gene Therapy, 01006, Vitoria-Gasteiz, Spain. marian.solinis@ehu.eus.
Publikováno v:
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy [BioDrugs] 2024 Sep; Vol. 38 (5), pp. 657-680. Date of Electronic Publication: 2024 Aug 23.