Zobrazeno 1 - 10
of 500
pro vyhledávání: '"multiple sulfatase deficiency"'
Autor:
Pham V; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Tricoli L; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hong X; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wongkittichote P; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand., Castruccio Castracani C; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Guerra A; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schlotawa L; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, 37075 Goettingen, Germany; Translational Neuroinflammation and Automated Microscopy, Fraunhofer Institute for Translational Medicine and Pharmacology, 37075 Goettingen, Germany., Adang LA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kuhs A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cassidy MM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kane O; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Tsai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Presa M; The Jackson Laboratory, Rare Disease Translational Center, Bar Harbor, ME 04609, USA., Lutz C; The Jackson Laboratory, Rare Disease Translational Center, Bar Harbor, ME 04609, USA., Rivella SB; Department of Pediatrics, Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; RNA Institute, University of Pennsylvania, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: ahrensnicklasr@email.chop.edu.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Nov 06; Vol. 32 (11), pp. 3829-3846. Date of Electronic Publication: 2024 Aug 22.
Autor:
Pham V; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: vi.pham@pennmedicine.upenn.edu., Sertori Finoti L; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: sertorifil@chop.edu., Cassidy MM; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: maggie.cassidy@pennmedicine.upenn.edu., Maguire JA; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: maguirej@chop.edu., Gagne AL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA. Electronic address: gagnea@chop.edu., Waxman EA; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; Center for Epilepsy and NeuroDevelopmental Disorders (ENDD), The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: waxmane@chop.edu., French DL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; Center for Epilepsy and NeuroDevelopmental Disorders (ENDD), The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA. Electronic address: frenchd@chop.edu., King K; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: kingc9@chop.edu., Zhou Z; Department of Chemistry, University of Washington, Seattle, WA 98195, USA., Gelb MH; Department of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu., Wongkittichote P; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Hong X; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA; The Children's Hospital of Philadelphia, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: hongx@chop.edu., Schlotawa L; University Medical Center Goettingen, Department of Pediatrics and Adolescent Medicine, Robert-Koch-Str. 40, 37075 Goettingen, Germany; Fraunhofer Institute for Translational Medicine and Pharmacology - Translational Neuroinflammation and Automated Microscopy, Robert-Koch-Str. 40, 37075, Goettingen, Germany. Electronic address: lars.schlotawa@med.uni-goettingen.de., Davidson BL; The Children's Hospital of Philadelphia, Center for Cellular and Molecular Therapeutics, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pathology and Laboratory Medicine, Philadelphia, PA 19104, USA. Electronic address: davidsonbl@chop.edu., Ahrens-Nicklas RC; The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA. Electronic address: ahrensnicklasr@chop.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Feb; Vol. 141 (2), pp. 108116. Date of Electronic Publication: 2023 Dec 21.
Autor:
Adang LA; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Mowafy S; Department of Chemistry, University of Washington, Seattle, Washington, USA.; Pharmaceutical Chemistry Department, Faculty of Pharmacy, Misr International University, Abbassia, Egypt., Herbst ZM; Department of Chemistry, University of Washington, Seattle, Washington, USA., Zhou Z; Department of Chemistry, University of Washington, Seattle, Washington, USA., Schlotawa L; Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, Germany., Radhakrishnan K; Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld, Germany., Bentley B; United MSD Foundation, Ocean Springs, Mississippi, USA., Pham V; Division of Human Genetics, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Yu E; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pillai NR; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Orchard PJ; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., De Castro M; Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA., Vanderver A; Division of Neurology, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pasquali M; Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA., Gelb MH; Department of Chemistry, University of Washington, Seattle, Washington, USA., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 374-386. Date of Electronic Publication: 2023 Nov 01.
Autor:
Saberi-Karimian M; International UNESCO Center for Health Related Basic Sciences and Human Nutrition, Mashhad University of Medical Sciences, Mashhad, Iran.; Endoscopic and Minimally Invasive Surgery Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Houra M; Department of Midwifery, School of Nursing and Midwifery, Mashhad University of Medical Sciences, Mashhad, Iran., Jamialahmadi T; Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Surgical Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sarvghadi P; Atiyeh Rehabilitation Center, Mashhad, Iran., Nikbaf M; Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran., Akhlaghi S; Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sahebkar A; Applied Biomedical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.; Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.; School of Medicine, The University of Western Australia, Perth, WA, Australia. amir_saheb2000@yahoo.com.; Department of Biotechnology, School of Pharmacy, Mashhad University of Medical Sciences, Mashhad, Iran. amir_saheb2000@yahoo.com.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2023 Dec; Vol. 22 (6), pp. 1250-1256. Date of Electronic Publication: 2022 Dec 09.
Autor:
Lin S; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Robson AG; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Thompson DA; Tony Kriss Visual Electrophysiology Unit, Department of Clinical and Academic Department of Ophthalmology, Sight and Sound Centre, Great Ormond Street Hospital for Children, London, UK.; UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Stepien KM; Adult Inherited Metabolic Disorders, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, London, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Footitt E; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Czyz O; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Chandrasekhar S; UCL Institute of Ophthalmology, University College London, London, UK., Schiff E; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Iosifidis C; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Black GC; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Michaelides M; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Mahroo OA; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, St Thomas' Hospital, London, UK., Arno G; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Division of Research, Greenwood Genetic Center, Greenwood, South Carolina, USA., Webster AR; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 505-511. Date of Electronic Publication: 2024 Jun 11.
Autor:
Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India. jayesh.sheth@frige.co.in., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Datar C; Bharati Hospital and Research Centre, Dhankawadi, Pune, India.; KEM Hospital, Rasta Peth, Pune, India., Bhatt K; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Raval P; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Nair A; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Jain D; Shishu Child Development and Early Intervention Centre, Ahmedabad, India., Shah J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India., Sheth H; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2023 Mar 24; Vol. 23 (1), pp. 133. Date of Electronic Publication: 2023 Mar 24.
Autor:
Schlotawa L; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany., Tyka K; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany., Kettwig M; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany., Ahrens-Nicklas RC; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Baud M; School of Chemistry and Institute for Life Sciences, University of Southampton, Southampton, UK., Berulava T; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases, Göttingen, Germany., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy., Gagne A; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Herbst ZM; Department of Chemistry, University of Washington, Seattle, WA, USA., Maguire JA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Monfregola J; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy., Pena T; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases, Göttingen, Germany.; Bioinformatics Unit, German Centre for Neurodegenerative Diseases, Göttingen, Germany., Radhakrishnan K; Faculty of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany., Schröder S; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases, Göttingen, Germany., Waxman EA; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ballabio A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Department of Molecular and Human Genetics and Neurological Research Institute, Baylor College of Medicine, Houston, TX, USA., Dierks T; Faculty of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany., Fischer A; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases, Göttingen, Germany.; Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.; Multiscale Bioimaging Cluster of Excellence, University Medical Center Göttingen, University of Göttingen, Göttingen, Germany., French DL; Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gelb MH; Department of Chemistry, University of Washington, Seattle, WA, USA., Gärtner J; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2023 Mar 08; Vol. 15 (3), pp. e14837. Date of Electronic Publication: 2023 Feb 15.
Autor:
Sorrentino NC; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy., Presa M; The Jackson Laboratory, Bar Harbor, Maine, USA., Attanasio S; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Cacace V; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Sofia M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Zuberi A; The Jackson Laboratory, Bar Harbor, Maine, USA., Ryan J; The Jackson Laboratory, Bar Harbor, Maine, USA., Ray S; The Jackson Laboratory, Bar Harbor, Maine, USA., Petkovic I; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Radhakrishnan K; Faculty of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany., Schlotawa L; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Göttingen, Germany., Ballabio A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, Texas, USA.; Department of Translational Medicine, Federico II University, Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Lutz C; The Jackson Laboratory, Bar Harbor, Maine, USA., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University, Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 335-347. Date of Electronic Publication: 2022 Dec 11.
Autor:
Zhang J; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Ma D; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Liu G; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Zeng H; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Wang Y; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Luo C; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Hu P; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China., Xu Z; Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing, China.
Publikováno v:
Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 Dec; Vol. 36 (12), pp. e24786. Date of Electronic Publication: 2022 Nov 28.
Autor:
Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Alagia M; Department of Translational Medicine, Federico II University, Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. Electronic address: brunetti@tigem.it.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2020 Aug; Vol. 130 (4), pp. 283-288. Date of Electronic Publication: 2020 Jun 17.