Zobrazeno 1 - 10
of 4 337
pro vyhledávání: '"Cerebroside"'
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:
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:
Madhana Priya N; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, Tamil Nadu, India., Sidharth Kumar N; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Biosciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India., Udhaya Kumar S; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Biosciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India; Department of Medicine, Division Endocrinology, Diabetes and Metabolism, Baylor College of Medicine, Houston, TX, United States., Mohanraj G; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Biosciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India., Magesh R; Department of Biotechnology, Sri Ramachandra Institute of Higher Education and Research (DU), Chennai, Tamil Nadu, India., Zayed H; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Vasudevan K; Department of Biotechnology, School of Applied Sciences, REVA University, Bengaluru, Karnataka, India., C GPD; Laboratory of Integrative Genomics, Department of Integrative Biology, School of Biosciences and Technology, Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India. Electronic address: georgepriyadoss@vit.ac.in.
Publikováno v:
Advances in protein chemistry and structural biology [Adv Protein Chem Struct Biol] 2024; Vol. 141, pp. 203-221. Date of Electronic Publication: 2024 Jun 25.
Autor:
Mir YR; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, 185234, India., Agrahari AK; Translational Health Science and Technology Institute, NCR Biotech Science Cluster, Faridabad, Haryana, India., Hassan A; Department of Ophthalmology GMC Srinagar, Srinagar, J&K, India., Choudhary A; Central University of South Bihar, Gaya, Bihar, India., Asthana S; Translational Health Science and Technology Institute, NCR Biotech Science Cluster, Faridabad, Haryana, India., Taneja AK; Department of Radiology, UT Southwestern Medical Center, Dallas, TX, USA., Nawaz S; Department of Pediatrics, GMC Jammu, Jammu, J&K, India., Ilyas M; Steadfast Healthcare, Jammu, J&K, India., Scotti C; Department of Molecular Medicine, Unit of Immunology and General Pathology, University of Pavia, Pavia, Italy., Kuchay RAH; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, 185234, India. kuchay_bgsbu@yahoo.com.
Publikováno v:
Molecular biology reports [Mol Biol Rep] 2023 Dec 28; Vol. 51 (1), pp. 30. Date of Electronic Publication: 2023 Dec 28.
Autor:
Adang LA; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: adangl@chop.edu., Bonkowsky JL; University of Utah, Salt Lake City, Utah, USA., Boelens JJ; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College of Cornell University, New York, New York, USA., Mallack E; Kennedy Krieger Institute, Baltimore, Maryland, USA., Ahrens-Nicklas R; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bernat JA; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA., Bley A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Burton B; Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Darling A; Hospital Sant Joan de Déu, Barcelona, Spain., Eichler F; Massachusetts General Hospital, Boston, Massachusetts, USA., Eklund E; Lund University, Lund, Sweden., Emrick L; Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Escolar M; Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; Forge Biologics, Grove City, Ohio, USA., Fatemi A; Kennedy Krieger Institute, Baltimore, Maryland, USA., Fraser JL; Children's National Hospital, Washington, District of Columbia, USA., Gaviglio A; Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, Georgia, USA; Association of Public Health Laboratories, Silver Spring, Maryland, USA., Keller S; Children's Healthcare of Atlanta, Atlanta, Georgia, USA., Patterson MC; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Orchard P; University of Minnesota, Minneapolis, Minnesota, USA., Orthmann-Murphy J; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Santoro JD; University of Southern California, Children's Hospital Los Angeles, Keck School of Medicine, Los Angeles, California, USA., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany., Sevin C; Université Paris-Saclay, Hôpital Bicêtre, Paris, France., Srivastava IN; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA., Rajan D; University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Rubin JP; Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Van Haren K; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California, USA., Wasserstein M; Department of Pediatrics, Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA., Zerem A; Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Fumagalli F; Ospedale San Raffaele, Milano, Italy., Laugwitz L; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Tübingen, Germany., Vanderver A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
Cytotherapy [Cytotherapy] 2024 Jul; Vol. 26 (7), pp. 739-748. Date of Electronic Publication: 2024 Apr 01.
Autor:
Philippidis A; Mary Ann Liebert, Inc., Publishers, New Rochelle, New York, USA.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2024 Apr; Vol. 35 (7-8), pp. 215-218.
Autor:
Ben Issa A; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.; Research laboratory 'Neuropédiatrie' (LR19ES15), Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Kamoun F; Research laboratory 'Neuropédiatrie' (LR19ES15), Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Child Neurology Department, CHU Hedi Chaker, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Bouchaala W; Research laboratory 'Neuropédiatrie' (LR19ES15), Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Child Neurology Department, CHU Hedi Chaker, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Charfi Triki C; Research laboratory 'Neuropédiatrie' (LR19ES15), Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.; Child Neurology Department, CHU Hedi Chaker, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Sfax, Tunisia.
Publikováno v:
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2024 Feb; Vol. 84 (1), pp. 35-46. Date of Electronic Publication: 2023 Oct 17.
Autor:
Santhanakumaran V; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Groeschel S; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Harzer K; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Kehrer C; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Elgün S; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Krägeloh-Mann I; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany., Laugwitz L; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany. Electronic address: lucia.laugwitz@med.uni-tuebingen.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Nov; Vol. 137 (3), pp. 273-282. Date of Electronic Publication: 2022 Sep 30.