Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Beta-mannosidosis"'
Autor:
Katz ML; Neurodegenerative Diseases Research Laboratory, University of Missouri, Columbia, MO 65212, USA. Electronic address: katzm@health.missouri.edu., Cook J; Specialists in Companion Animal Neurology, Clearwater, FL 33765, USA., Vite CH; Department of Clinical Sciences and Advanced Medicine, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA., Campbell RS; Department of Clinical Sciences and Advanced Medicine, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA 19104, USA., Coghill LM; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Lyons LA; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA; Department of Veterinary Medicine & Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
Publikováno v:
Gene [Gene] 2024 Jan 30; Vol. 893, pp. 147941. Date of Electronic Publication: 2023 Oct 31.
Autor:
He R; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China., Liu J; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China., Xu H; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China., Tang X; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China., Liu H; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China., Zhao S; National Centre for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Publikováno v:
Pediatric pulmonology [Pediatr Pulmonol] 2023 Apr; Vol. 58 (4), pp. 1272-1274. Date of Electronic Publication: 2023 Jan 17.
Autor:
Renaud DL; Departments of Neurology and Pediatrics, Mayo Clinic College of Science and Medicine, Rochester, Minnesota. Electronic address: renaud.deborah@mayo.edu.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2023 Mar; Vol. 140, pp. 76-77. Date of Electronic Publication: 2022 Dec 26.
Autor:
González-Jiménez A; Laboratorio de Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain., López-Cotarelo P; Laboratorio de Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain., Agudo-Jiménez T; Laboratorio de Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain., Casanova I; Servicio de Neurología, Hospital Universitario de Torrejón, 28850 Madrid, Spain., Silanes CL; Servicio de Neurología, Hospital Universitario de Torrejón, 28850 Madrid, Spain., Martín-Requero Á; Centro de Investigaciones Biológicas, CSIC, 28006 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto Carlos III, 28029 Madrid, Spain., Matesanz F; Departmento Biología Celular e Inmunología, Instituto de Parasitología y Biomedicina López Neyra, IPBLN-CSIC, 18016 Granada, Spain., Urcelay E; Laboratorio de Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain., Espino-Paisán L; Laboratorio de Genética de Enfermedades Complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Jul 23; Vol. 23 (15). Date of Electronic Publication: 2022 Jul 23.
Autor:
Safka Brozkova D; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. dana.brozkova@lfmotol.cuni.cz., Varga L; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Uhrova Meszarosova A; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Slobodova Z; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Skopkova M; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Soltysova A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.; Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia., Jencik J; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Lastuvkova J; Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic., Gasperikova D; Diabgene Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia., Seeman P; DNA laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 26; Vol. 15 (1), pp. 222. Date of Electronic Publication: 2020 Aug 26.
Autor:
Jolly RD; 1 School of Veterinary Science, Massey University, Palmerston North, New Zealand., Dittmer KE; 1 School of Veterinary Science, Massey University, Palmerston North, New Zealand., Garrick DJ; 1 School of Veterinary Science, Massey University, Palmerston North, New Zealand., Chernyavtseva A; 1 School of Veterinary Science, Massey University, Palmerston North, New Zealand., Hemsley KM; 2 Childhood Dementia Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., King B; 2 Childhood Dementia Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Fietz M; 3 SA Pathology, North Adelaide, South Australia, Australia., Shackleton NM; 4 Veterinary Clinical Pathology Ltd., Christchurch, New Zealand., Fairley R; 5 Gribbles Veterinary Pathology Ltd., Christchurch, New Zealand., Wylie K; 6 Total Veterinary Services, Christchurch, New Zealand.
Publikováno v:
Veterinary pathology [Vet Pathol] 2019 Sep; Vol. 56 (5), pp. 743-748. Date of Electronic Publication: 2019 Apr 14.
Autor:
Bolfa P; Department of Biomedical Sciences, Ross University School of Veterinary Medicine, PO Box 334, Basseterre, Saint Kitts and Nevis. Electronic address: pompeibolfa@gmail.com., Wang P; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA 19104-6010, USA., Nair R; Department of Clinical Sciences, Ross University School of Veterinary Medicine, PO Box 334, Basseterre, Saint Kitts and Nevis., Rajeev S; Department of Biomedical Sciences, Ross University School of Veterinary Medicine, PO Box 334, Basseterre, Saint Kitts and Nevis., Armien AG; Ultrastructural Pathology Unit, Veterinary Diagnostic Laboratory, University of Minnesota, 1333 Gortner Avenue, St. Paul, MN 55108, USA., Henthorn PS; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA 19104-6010, USA., Wood T; Biochemical Genetics Laboratory, Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC 29646, USA., Thrall MA; Department of Biomedical Sciences, Ross University School of Veterinary Medicine, PO Box 334, Basseterre, Saint Kitts and Nevis., Giger U; Section of Medical Genetics (PennGen), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA 19104-6010, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2019 Sep - Oct; Vol. 128 (1-2), pp. 137-143. Date of Electronic Publication: 2019 Aug 10.
Autor:
Lund TC; Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota., Miller WP; Sangamo Therapeutics, Richmond, California., Eisengart JB; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Simmons K; Sanofi, Rare Disease Division, Sanofi Genzyme US, Bridgewater, New Jersey., Pollard L; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina., Renaud DL; Department of Neurology, Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota., Wenger DA; Lysosomal Diseases Testing Laboratory, Department of Neurology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania., Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota., Orchard PJ; Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00712. Date of Electronic Publication: 2019 May 21.
Autor:
Blomqvist M; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg 413 45, Sweden.; Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska Academy, Gothenburg University, Gothenburg 413 45, Sweden., Smeland MF; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø 9038, Norway., Lindgren J; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg 413 45, Sweden., Sikora P; Laboratory Medicine, Sahlgrenska University Hospital, Gothenburg 413 45, Sweden.; Clinical Genomics Gothenburg, Science for Life Laboratories, Gothenburg 405 30, Sweden., Riise Stensland HMF; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø 9038, Norway., Asin-Cayuela J; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg 413 45, Sweden.; Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska Academy, Gothenburg University, Gothenburg 413 45, Sweden.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Jun 03; Vol. 5 (3). Date of Electronic Publication: 2019 Jun 03 (Print Publication: 2019).
Autor:
Gytz H; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada., Liang J; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada., Liang Y; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada., Gorelik A; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada., Illes K; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada., Nagar B; Department of Biochemistry, Groupe de Recherche Axé sur la Structure des Protéines, McGill University, Montreal, Canada.
Publikováno v:
The FEBS journal [FEBS J] 2019 Apr; Vol. 286 (7), pp. 1319-1331. Date of Electronic Publication: 2019 Jan 03.