Zobrazeno 1 - 10
of 9 831
pro vyhledávání: '"sulfatase"'
Autor:
Balasubramonian B; Department of Biological Sciences, Duquesne University, Pittsburgh, PA, USA., Selcer KW; Department of Biological Sciences, Duquesne University, Pittsburgh, PA, USA. Electronic address: selcer@duq.edu.
Publikováno v:
Steroids [Steroids] 2024 Oct; Vol. 210, pp. 109483. Date of Electronic Publication: 2024 Jul 23.
Autor:
Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pathak RR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Evuarherhe O; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Carter G; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Schaeffer-Koziol CR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA., Wright E; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 06; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 06.
Autor:
Groeschel S; Department of Pediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Beerepoot S; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience-Cellular and Molecular Mechanisms, Vrije Universiteit, Amsterdam, Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands., Amedick LB; Department of Pediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Krӓgeloh-Mann I; Department of Pediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Li J; Takeda Development Center Americas, Inc., Lexington, Massachusetts, USA., Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, Massachusetts, USA., Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience-Cellular and Molecular Mechanisms, Vrije Universiteit, Amsterdam, Netherlands., Port JD; Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 778-791. Date of Electronic Publication: 2024 Feb 06.
Autor:
Bekri S; Hospital Charles Nicolle, UNIROUEN INSERM U1245, CHU Rouen, Referral Center for Lysosomal Diseases, Department of Metabolic Biochemistry, 76000 Rouen, France.. Electronic address: Soumeya.Bekri@chu-rouen.fr., Bley A; Department of Pediatrics, University Medical Center, Hamburg Eppendorf, Hamburg, Germany., Brown HA; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Chanson C; Orchard Therapeutics Limited, 245 Hammersmith Rd, London W6 8PW, UK., Church HJ; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Gelb MH; Dept. of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu., Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Janzen N; Screening-Laboratory Hannover, Hannover 30430, Germany; Department of Clinical Chemistry, Hannover Medical School, Hannover, Germany; Centre for Children and Adolescents, Kinder- and Jugenbrankenhaus Auf der Bult, Hannover, Germany., Kasper DC; Archimedlife, Vienna, Austria., Mechtler T; Archimedlife, Vienna, Austria. Electronic address: t.mechtler@archimedlife.com., Morton G; ArchAngel MLD Trust, 506 Betula House, North Wharf Road, London W1 2DT, UK., Murko S; Newborn Screening and Metabolic Laboratory, Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Oliva P; Archimedlife, Vienna, Austria., Tebani A; Hospital Charles Nicolle, UNIROUEN INSERM U1245, CHU Rouen, Referral Center for Lysosomal Diseases, Department of Metabolic Biochemistry, 76000 Rouen, France., Wu THY; Willink Biochemical Genetics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: hoiyee.wu@mft.nhs.uk.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108436. Date of Electronic Publication: 2024 Mar 22.
Autor:
Zhang J; Department of Gynecology and Obstetrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing 102208, P.R. China., Yao Y; Department of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China., Tan Y; Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing 102206, P.R. China; 4Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing 100191, P.R. China., Hu HY; Jiaen Genetics Laboratory, Beijing Jiaen Hospital, Beijing 100191, P.R. China., Zeng LX; Department of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China., Zhang GQ; Department of Dermatology, The First Hospital of Hebei Medical University, Candidate Branch of National Clinical Research Center for Skin Diseases, Hebei Provincial Innovation Center of Dermatology and Medical Cosmetology Technology, Shijiazhuang, Hebei 050030, P.R. China.
Publikováno v:
Molecular medicine reports [Mol Med Rep] 2024 Jul; Vol. 30 (1). Date of Electronic Publication: 2024 May 02.
Autor:
Wren GH; School of Psychology, Cardiff University, Cardiff, UK., Flanagan J; Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK., Underwood JFG; Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK., Thompson AR; School of Psychology, Cardiff University, Cardiff, UK.; South Wales Clinical Psychology Doctoral Programme, Cardiff and Vale University Health Board, Cardiff, UK., Humby T; School of Psychology, Cardiff University, Cardiff, UK., Davies W; School of Psychology, Cardiff University, Cardiff, UK.; Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.; Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK.
Publikováno v:
Genes, brain, and behavior [Genes Brain Behav] 2024 Jun; Vol. 23 (3), pp. e12893.
Autor:
Li T; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Huang Y; Department of Guangzhou Newborn Screening Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China., Tao C; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Yin X; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Su X; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Shao Y; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Liang C; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Jiang M; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Cai Y; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Lin Y; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Zeng C; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Zhao X; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China., Liu L; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China. liliuchina@qq.com., Zhang W; Department of Genetics and Endocrinology, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China. zhw2001zhw@163.com.
Publikováno v:
Metabolic brain disease [Metab Brain Dis] 2024 Jun; Vol. 39 (5), pp. 753-762. Date of Electronic Publication: 2024 May 22.
Autor:
Wu THY; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK. Electronic address: hoiyee.wu@mft.nhs.uk., Brown HA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Church HJ; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Kershaw CJ; North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Hutton R; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Egerton C; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Cooper J; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Tylee K; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Cohen RN; North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Gokhale D; North-West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK., Ram D; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK., Morton G; ArchAngel MLD Trust, 506 Betula House, North Wharf Road, London W2 1DT, UK., Henderson M; Specialist Laboratory Medicine, Leeds Teaching Hospitals Trust, Leeds LS9 7TF, UK., Bigger BW; Stem Cell & Neurotherapies, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK; Centre for Regenerative Medicine, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh EH16 4UU, UK., Jones SA; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Oxford Road, Manchester M13 9WL, UK.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108349. Date of Electronic Publication: 2024 Feb 20.
Autor:
Das S; Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02115, USA., Rruga F; Division of Hematology, Oncology and Stem Cell Transplantation, Department of Women and Child's Health, University of Padua, 35128 Padua, Italy., Montepeloso A; Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02115, USA., Dimartino A; Division of Hematology, Oncology and Stem Cell Transplantation, Department of Women and Child's Health, University of Padua, 35128 Padua, Italy., Spadini S; Division of Hematology, Oncology and Stem Cell Transplantation, Department of Women and Child's Health, University of Padua, 35128 Padua, Italy., Corre G; Genethon, 91000 Evry, France., Patel J; Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02115, USA., Cavalca E; Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02115, USA., Ferro F; Gene Therapy Program, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA 02115, USA., Gatti A; AGC Biologics, 20091 Milan, Italy., Milazzo R; Altheia Science s.r.l., 20122 Milan, Italy., Galy A; Genethon, 91000 Evry, France., Politi LS; Humanitas University and IRCCS Humanitas Research Hospital, 20090 Pieve Emanuele (MI), Italy., Rizzardi GP; Altheia Science s.r.l., 20122 Milan, Italy., Vallanti G; AGC Biologics, 20091 Milan, Italy., Poletti V; Division of Hematology, Oncology and Stem Cell Transplantation, Department of Women and Child's Health, University of Padua, 35128 Padua, Italy., Biffi A; Division of Hematology, Oncology and Stem Cell Transplantation, Department of Women and Child's Health, University of Padua, 35128 Padua, Italy. Electronic address: alessandra.biffi@unipd.it.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2024 Mar 06; Vol. 32 (3), pp. 619-636. Date of Electronic Publication: 2024 Feb 03.
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.