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Tytuł :
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Autorzy :
Luo X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Duan Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Fang D; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Sun Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Xiao B; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Zhang H; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Han L; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Liang L; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Gong Z; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Gu X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Yu Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
Qiu W; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Institute for Pediatric Research, Shanghai, China.
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Źródło :
Human mutation [Hum Mutat] 2022 May; Vol. 43 (5), pp. 557-567. Date of Electronic Publication: 2022 Feb 24.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease*/diagnosis
Glycogen Storage Disease*/genetics
Glycogen Storage Disease Type VI*/diagnosis
Hyperuricemia*
Adolescent ; Follow-Up Studies ; Glycogen Phosphorylase, Liver Form ; Humans
Czasopismo naukowe
Tytuł :
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Autorzy :
Álvarez-Velasco R; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Nuñez-Peralta CA; Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Alonso-Pérez J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Gallardo E; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
Collet-Vidiella R; Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Reyes-Leiva D; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Pascual-Goñi E; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Martín-Aguilar L; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Caballero-Ávila M; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
Carbayo-Viejo Á; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Llauger-Roselló J; Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Díaz-Manera J; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.; John Walton Muscular Dystrophy Research Centre, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Olivé M; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
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Źródło :
Muscle & nerve [Muscle Nerve] 2022 May; Vol. 65 (5), pp. 568-573. Date of Electronic Publication: 2022 Feb 26.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease Type V*/diagnostic imaging
Glycogen Storage Disease Type V*/pathology
Paraspinal Muscles*/diagnostic imaging
Adult ; Humans ; Magnetic Resonance Imaging ; Muscle Weakness/etiology ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Prevalence ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Liver transplantation in glycogen storage disease: a single-center experience.
Autorzy :
Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.
Shamsaeefar A; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Kazemi K; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Nikeghbalian S; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Bahador A; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Dehghani M; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Malekhosseini SA; Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Geramizadeh B; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran. .; Department of Pathology, Medical School of Shiraz University, Shiraz University of Medical Sciences, Shiraz, Iran. .
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 21; Vol. 17 (1), pp. 127. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease*/diagnosis
Glycogen Storage Disease*/metabolism
Glycogen Storage Disease*/surgery
Glycogen Storage Disease Type I*/complications
Glycogen Storage Disease Type I*/metabolism
Glycogen Storage Disease Type I*/surgery
Glycogen Storage Disease Type III*/complications
Glycogen Storage Disease Type III*/metabolism
Glycogen Storage Disease Type VI*/complications
Glycogen Storage Disease Type VI*/metabolism
Liver Transplantation*
Humans ; Liver/metabolism ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature.
Autorzy :
Pan X; Department of Rheumatology and Immunology, 159358Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China.
Yuan Y; School of Foreign Languages of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China.
Wu B; Department of Rheumatology and Immunology, 159358Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China.
Zheng W; Department of Rheumatology and Immunology, 159358Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China.
Tian M; Department of Rheumatology and Immunology, 159358Affiliated Hospital of Zunyi Medical University, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563003, P. R. China.
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Źródło :
The Journal of international medical research [J Int Med Res] 2022 Mar; Vol. 50 (3), pp. 3000605221084873.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Glycogen Storage Disease*/diagnosis
Glycogen Storage Disease*/genetics
Glycogen Storage Disease*/pathology
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Polymyositis*/diagnosis
Polymyositis*/genetics
Adult ; Female ; Humans ; Lipid Metabolism, Inborn Errors ; Lipids ; Muscular Dystrophies ; Mutation
SCR Disease Name :
Myopathy with Abnormal Lipid Metabolism
Czasopismo naukowe
Tytuł :
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
Autorzy :
Wang J; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.
Yu Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China.
Cai C; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Tianjin Pediatric Research Institute, 300134, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China.
Zhi X; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China.
Zhang Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China.
Zhao Y; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.
Shu J; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China. .; Tianjin Pediatric Research Institute, 300134, Tianjin, China. .; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China. .; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, 300134, Tianjin, China. .
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Źródło :
BMC pediatrics [BMC Pediatr] 2022 May 16; Vol. 22 (1), pp. 284. Date of Electronic Publication: 2022 May 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Glycogen Storage Disease Type III*/diagnosis
Glycogen Storage Disease Type III*/genetics
Hypoglycemia*
China ; Hepatomegaly ; Humans ; Mutation ; Transaminases
Czasopismo naukowe
Tytuł :
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.
Autorzy :
Halligan RK; Inherited Metabolic Diseases, Evelina London Children's Hospital, London, SE1 7EH, UK. .
Dalton RN; WellChild Laboratory, Evelina London Children's Hospital, London, UK.
Turner C; WellChild Laboratory, Evelina London Children's Hospital, London, UK.
Lewis KA; Inherited Metabolic Diseases, Evelina London Children's Hospital, London, SE1 7EH, UK.
Mundy HR; Inherited Metabolic Diseases, Evelina London Children's Hospital, London, SE1 7EH, UK.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 12; Vol. 17 (1), pp. 195. Date of Electronic Publication: 2022 May 12.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease Type I*/complications
Glycogen Storage Disease Type I*/drug therapy
Hypoglycemia*/drug therapy
Neutropenia*
Sodium-Glucose Transporter 2 Inhibitors*/therapeutic use
Adult ; Antiporters ; Child ; Humans ; Monosaccharide Transport Proteins ; United Kingdom
SCR Disease Name :
Glycogen Storage Disease IB
Czasopismo naukowe
Tytuł :
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Autorzy :
Shao Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li T; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Jiang M; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Xu J; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Huang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Zheng R; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Liu L; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. .
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Źródło :
BMC pediatrics [BMC Pediatr] 2022 May 12; Vol. 22 (1), pp. 267. Date of Electronic Publication: 2022 May 12.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Glycogen Storage Disease*/diagnosis
Glycogen Storage Disease*/genetics
Glycogen Storage Disease*/pathology
Hypoglycemia*
Humans ; Infant, Newborn ; Liver/pathology ; Mutation ; Phosphorylase Kinase/genetics
SCR Disease Name :
Glycogen Storage Disease IXC
Czasopismo naukowe
Tytuł :
Delineating the Neuropathology of Lysosomal Storage Diseases Using Patient-Derived Induced Pluripotent Stem Cells.
Autorzy :
Sabitha KR; Centre for Molecular Neurosciences, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Chandran D; Centre for Molecular Neurosciences, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Shetty AK; Institute for Regenerative Medicine, Texas A&M University College of Medicine, College Station, Texas, USA.; Department of Molecular and Cellular Medicine, Texas A&M University College of Medicine, College Station, Texas, USA.
Upadhya D; Centre for Molecular Neurosciences, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
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Źródło :
Stem cells and development [Stem Cells Dev] 2022 May; Vol. 31 (9-10), pp. 221-238. Date of Electronic Publication: 2022 Apr 27.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Induced Pluripotent Stem Cells*/metabolism
Lysosomal Storage Diseases*/genetics
Lysosomal Storage Diseases*/metabolism
Lysosomal Storage Diseases*/therapy
Autophagy ; Cell Differentiation/genetics ; Humans ; Lysosomes/metabolism ; Lysosomes/pathology
Czasopismo naukowe
Tytuł :
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
Autorzy :
Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
Chang KL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
In 't Groen SLM; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
de Faria DOS; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Huang HJ; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Pijnappel WWMP; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: .
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Źródło :
The Journal of pediatrics [J Pediatr] 2022 May; Vol. 244, pp. 139-147.e2. Date of Electronic Publication: 2022 Jan 04.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Glycogen Storage Disease Type II*/diagnosis
Glycogen Storage Disease Type II*/genetics
Glycogen Storage Disease Type II*/therapy
Enzyme Replacement Therapy ; Humans ; Infant, Newborn ; Neonatal Screening ; Prospective Studies ; alpha-Glucosidases/genetics
Czasopismo naukowe
Tytuł :
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Autorzy :
Strovel ET; Department of Pathology, University of Maryland School of Medicine, Baltimore, MD.
Cusmano-Ozog K; Department of Pathology, Stanford University School of Medicine, Stanford, CA.
Wood T; Section of Genetics and Metabolism, Department of Pediatrics, School of Medicine, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO.
Yu C; Department of Genetics and Genomics Science, Icahn School of Medicine at Mount Sinai, New York, NY; Sema4, Stamford, CT.
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Corporate Authors :
ACMG Laboratory Quality Assurance Committee. Electronic address: ; American College of Medical Genetics and Genomics, Bethesda, MD.
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 769-783. Date of Electronic Publication: 2022 Feb 10.
Typ publikacji :
Practice Guideline
MeSH Terms :
Genetics, Medical*
Lysosomal Storage Diseases*/diagnosis
Lysosomal Storage Diseases*/genetics
Genomics ; Humans ; Infant, Newborn ; Lysergic Acid Diethylamide ; Lysosomes/genetics ; United States
Tytuł :
Cognitive impairment in glycogen storage disease type III with severe heart failure: A case report.
Autorzy :
Michaud M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France. Electronic address: .
Dillier C; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.
Selton M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.
Michot N; Department of Endocrinology, Diabetology and Nutrition, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France.
Metzdorf A; Department of Cardiology, CHRU Brabois, 54500 Vandœuvre-lès-Nancy, France.
Debouverie M; Department of Neurology, Nord-Est-Île-de-France Neuromuscular Reference Center, CHRU central, 54035 Nancy, France.
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Źródło :
Revue neurologique [Rev Neurol (Paris)] 2022 Apr; Vol. 178 (4), pp. 391-393. Date of Electronic Publication: 2021 Dec 09.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Cognitive Dysfunction*/diagnosis
Cognitive Dysfunction*/etiology
Glycogen Storage Disease*
Glycogen Storage Disease Type III*
Heart Failure*/complications
Heart Failure*/diagnosis
Humans ; Liver
Raport
Tytuł :
DNA-Based Concatenated Encoding System for High-Reliability and High-Density Data Storage.
Autorzy :
Ren Y; Department of Chemistry, Tsinghua University, Beijing, 100084, China.
Zhang Y; State Key Laboratory of Rare Earth Resource Utilization, Changchun Institute of Applied Chemistry, Chinese Academy of Sciences, Changchun, Jilin, 130022, China.
Liu Y; State Key Laboratory of Rare Earth Resource Utilization, Changchun Institute of Applied Chemistry, Chinese Academy of Sciences, Changchun, Jilin, 130022, China.
Wu Q; Institute of Process Equipment, College of Energy Engineering and State Key Laboratory of Fluid Power and Mechatronic Systems, Zhejiang University, Hangzhou, Zhejiang, 310027, China.
Su J; College of Materials Science and Opto-Electronic Technology, University of Chinese Academy of Sciences, Beijing, 100049, China.
Wang F; State Key Laboratory of Rare Earth Resource Utilization, Changchun Institute of Applied Chemistry, Chinese Academy of Sciences, Changchun, Jilin, 130022, China.
Chen D; Institute of Process Equipment, College of Energy Engineering and State Key Laboratory of Fluid Power and Mechatronic Systems, Zhejiang University, Hangzhou, Zhejiang, 310027, China.
Fan C; Frontiers Science Center for Transformative Molecules, School of Chemistry and Chemical Engineering, and Institute of Molecular Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200240, China.
Liu K; Department of Chemistry, Tsinghua University, Beijing, 100084, China.
Zhang H; Department of Chemistry, Tsinghua University, Beijing, 100084, China.
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Źródło :
Small methods [Small Methods] 2022 Apr; Vol. 6 (4), pp. e2101335. Date of Electronic Publication: 2022 Feb 10.
Typ publikacji :
Journal Article
MeSH Terms :
DNA*/genetics
Information Storage and Retrieval*
Nucleotides ; Reproducibility of Results ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
DeSP: a systematic DNA storage error simulation pipeline.
Autorzy :
Yuan L; Tsinghua-Berkeley Shenzhen Institute, Tsinghua University, Shenzhen, 518055, China.
Xie Z; Ministry of Education Key Laboratory of Bioinformatics; Center for Synthetic and Systems Biology; Beijing National Research Center for Information Science and Technology; Department of Automation, Tsinghua University, Beijing, China, 100084.
Wang Y; Ministry of Education Key Laboratory of Bioinformatics; Center for Synthetic and Systems Biology; Beijing National Research Center for Information Science and Technology; Department of Automation, Tsinghua University, Beijing, China, 100084.
Wang X; Ministry of Education Key Laboratory of Bioinformatics; Center for Synthetic and Systems Biology; Beijing National Research Center for Information Science and Technology; Department of Automation, Tsinghua University, Beijing, China, 100084. .
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2022 May 17; Vol. 23 (1), pp. 185. Date of Electronic Publication: 2022 May 17.
Typ publikacji :
Journal Article
MeSH Terms :
DNA*/genetics
Information Storage and Retrieval*
Computer Simulation ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł :
Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.
Autorzy :
Li W; Department of Chemistry, University of Illinois at Chicago, USA. .
Cologna SM; Department of Chemistry, University of Illinois at Chicago, USA. .
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Źródło :
Molecular omics [Mol Omics] 2022 May 11; Vol. 18 (4), pp. 256-278. Date of Electronic Publication: 2022 May 11.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Lysosomal Storage Diseases*/genetics
Lysosomal Storage Diseases*/metabolism
Lysosomal Storage Diseases*/therapy
Proteomics*
Biomarkers/metabolism ; Humans ; Lysosomes/metabolism ; Mass Spectrometry
Czasopismo naukowe
Tytuł :
Glycogen Storage Disease Phenotypes Accompanying the Perturbation of the Methionine Cycle in NDRG3-Deficient Mouse Livers.
Autorzy :
Sohn HA; Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 34141, Korea.; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Lee DC; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Park A; Metabolic Regulation Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Kang M; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Yoon BH; Korea Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Lee CH; Laboratory Animal Resource Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, KRIBB School of Bioscience, University of Science and Technology, Daejeon 34141, Korea.
Kim YH; Laboratory Animal Resource Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, KRIBB School of Bioscience, University of Science and Technology, Daejeon 34141, Korea.
Oh KJ; Metabolic Regulation Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, KRIBB School of Bioscience, University of Science and Technology, Daejeon 34141, Korea.
Kim CY; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Park SH; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Koo H; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Kim HC; Laboratory Animal Resource Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Korea.
Yoon WK; Laboratory Animal Resource Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 28116, Korea.
Lim DS; Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 34141, Korea.
Kim D; Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 34141, Korea.
Park KC; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, KRIBB School of Bioscience, University of Science and Technology, Daejeon 34141, Korea.
Yeom YI; Personalized Genomic Medicine Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, KRIBB School of Bioscience, University of Science and Technology, Daejeon 34141, Korea.
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Źródło :
Cells [Cells] 2022 May 04; Vol. 11 (9). Date of Electronic Publication: 2022 May 04.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease*/metabolism
Methionine*/metabolism
Animals ; Glucose/metabolism ; Liver/metabolism ; Mice ; Mice, Knockout ; Phenotype ; S-Adenosylmethionine/metabolism
Czasopismo naukowe
Tytuł :
Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.
Autorzy :
Stiers KM; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
Owuocha LF; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
Beamer LJ; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
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Źródło :
Acta crystallographica. Section F, Structural biology communications [Acta Crystallogr F Struct Biol Commun] 2022 May 01; Vol. 78 (Pt 5), pp. 200-209. Date of Electronic Publication: 2022 Apr 25.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease*/genetics
Glycogen Storage Disease*/metabolism
Phosphoglucomutase*/chemistry
Phosphoglucomutase*/genetics
Phosphoglucomutase*/metabolism
Catalytic Domain ; Crystallography, X-Ray ; Humans ; Mutation, Missense
Czasopismo naukowe
Tytuł :
Circumcision bleeding rates in patients diagnosed with delta-storage pool deficiency later in life.
Autorzy :
Absi HA; Department of Pediatrics, University of Toledo, Toledo, Ohio, USA.
Stein D; Division of Pediatric Hematology and Oncology, Russell J. Ebeid Children's hospital, Toledo, Ohio, USA.
Pokaż więcej
Źródło :
Pediatric blood & cancer [Pediatr Blood Cancer] 2022 May; Vol. 69 (5), pp. e29622. Date of Electronic Publication: 2022 Mar 02.
Typ publikacji :
Journal Article
MeSH Terms :
Circumcision, Male*/adverse effects
Hemostatics*
Platelet Storage Pool Deficiency*
Hemorrhage/etiology ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies
Czasopismo naukowe

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