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1
المؤلفون: D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, M Reichold, J Tobin, E Lieberer, C Sterner, G Landoure, R Arora, T Sirimanna, D Thompson, JH Cross, W van't Hoff, O Al Masri, K Tullus, S Yeung, Y Anikster, E Klootwijk, M Hubank, MJ Dillon, D Heitzmann, M Arcos-Burgos, MA Knepper, A Dobbie, WA Gahl, R Warth, E Sheridan, R Kleta
المصدر: Clinical Journal of the American Society of Nephrology. 4:1701-1704
مصطلحات موضوعية: Transplantation, Nephrology, Epidemiology, Critical Care and Intensive Care Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8872c6eda836c7e6713f962c667343b0
https://doi.org/10.2215/01.cjn.0000927052.57897.21 -
2
المؤلفون: Tm, Pierson, Adams D, Bonn F, Martinelli P, Pf, Cherukuri, Jk, Teer, Nf, Hansen, Cruz P, Jc, Mullikin, Rw, Blakesley, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Elena Rugarli, Langer T, Wa, Gahl, Toro C
المصدر: PLoS Genetics, Vol 9, Iss 2 (2013)
Europe PubMed Central
PLoS Geneticsمصطلحات موضوعية: Cancer Research, Genetics, Correction, QH426-470, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics
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3
المؤلفون: DL Domingo, MI Trujillo, SE Council, MA Merideth, LB Gordon, T Wu, WJ Introne, WA Gahl, TC Hart
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Biology, Article, LMNA, Anodontia, Progeria, medicine, Alveolar Process, Humans, Abnormalities, Multiple, Prospective Studies, Craniofacial, Child, General Dentistry, integumentary system, Dentition, Tooth Abnormalities, Soft tissue, Facies, Infant, Anatomy, Syndrome, medicine.disease, Maxillofacial Abnormalities, stomatognathic diseases, Hypodontia, Phenotype, Otorhinolaryngology, Child, Preschool, Female, Malocclusion, Age Determination by Teeth, Mouth Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6034f4aba105cfbde05f0f9fffe00df
https://europepmc.org/articles/PMC2664390/ -
4
المؤلفون: Hc, Andersson, Ld, Kohn, Bernardini I, Henk Blom, Tietze F, Wa, Gahl
المصدر: Europe PubMed Central
مصطلحات موضوعية: Monoiodotyrosine, Hot Temperature, Phenylalanine, Thyroid Gland, Thyrotropin, Biological Transport, Hydrogen-Ion Concentration, Binding, Competitive, Cell Line, Rats, Kinetics, Structure-Activity Relationship, Leucine, Animals, Tyrosine, Carrier Proteins, Lysosomes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8c080d18e85b0ec9e1b36b18e496b884
http://europepmc.org/abstract/med/2358448 -
5دورية أكاديمية
المؤلفون: Spears KR; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Rossignol F; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Perry MB; Rehabilitation Medicine Department, NIH Clinical Center, United States., Kayser MA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Suwannarat P; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., O'Brien KE; Office of the Clinical Director, NHGRI, United States., Bryant JC; Office of the Clinical Director, NHGRI, United States., Greenwood WF; Cycle Pharmaceuticals Limited, United Kingdom., Fuller S; Cycle Pharmaceuticals Limited, United Kingdom., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, United States. Electronic address: wintrone@mail.nih.gov.
المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug 03; Vol. 143 (1-2), pp. 108562. Date of Electronic Publication: 2024 Aug 03.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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6دورية أكاديمية
المؤلفون: Evans AM; UniSA Clinical & Health Sciences, University of South Australia, Adelaide, SA, Australia., Fornasini G; Leadiant Biosciences, Inc., Rockville, MD, USA., Meola TR; UniSA Clinical & Health Sciences, University of South Australia, Adelaide, SA, Australia., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Polasek TM; Certara, Princeton, NJ, USA.; Centre for Medicine Use and Safety, Monash University, Melbourne, Australia., Reuter SE; UniSA Clinical & Health Sciences, University of South Australia, Adelaide, SA, Australia.
المصدر: Clinical pharmacology in drug development [Clin Pharmacol Drug Dev] 2024 Aug; Vol. 13 (8), pp. 876-883. Date of Electronic Publication: 2024 Jun 20.
نوع المنشور: Journal Article; Randomized Controlled Trial
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101572899 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2160-7648 (Electronic) Linking ISSN: 2160763X NLM ISO Abbreviation: Clin Pharmacol Drug Dev Subsets: MEDLINE
مواضيع طبية MeSH: Cross-Over Studies* , Hexosamines*/administration & dosage , Hexosamines*/pharmacokinetics , Food-Drug Interactions* , N-Acetylneuraminic Acid*/administration & dosage , N-Acetylneuraminic Acid*/pharmacokinetics , N-Acetylneuraminic Acid*/blood, Humans ; Female ; Male ; Adult ; Administration, Oral ; Young Adult ; Middle Aged ; Fasting ; Healthy Volunteers ; Area Under Curve ; Intestinal Absorption
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7دورية أكاديمية
المؤلفون: Morimoto M; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ryu E; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Steger BJ; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dixit A; Nottingham University Hospital, Nottingham, UK., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Yoo J; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biological Sciences, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hauser N; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Steinbach PJ; Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Oura K; Division of Neurology and Gerontology, Department of Internal Medicine, School of Medicine Iwate Medical University, Morioka, Japan., Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ninomiya S; Department of Clinical Genetics, Kurashiki Central Hospital, Okayama, Japan., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Robinson HK; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Subramony SH; Department of Neurology, University of Florida College of Medicine, Gainesville, FL, USA., Diamonstein CJ; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Ping J; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA., Fenner M; Nottingham University Hospital, Nottingham, UK., Balton EV; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Bamshad MJ; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Gandhi M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Dipple KM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; University of Washington School of Public Health, Institute for Public Health Genetics, Seattle, WA, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lau CC; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Solomon BD; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA., Nelson SF; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Kang S; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea., Gahl WA; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Toro C; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Myung K; Center for Genomic Integrity, Institute for Basic Science, Ulsan, Republic of Korea; Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, Republic of Korea., Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
مؤلفون مشاركون: University of Washington Center for Rare Disease Research, Undiagnosed Diseases Network
المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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8دورية أكاديمية
المؤلفون: Ferrante EA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Cudrici CD; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Rashidi M; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Fu YP; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Huffstutler R; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Carney K; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Chen MY; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., St Hilaire C; Departments of Medicine and Bioengineering, Vascular Medicine Institute, University of Pittsburg, PA, USA., Smith K; Clinical Center Nursing Department, Hatfield Clinical Center at the National Institutes of Health, Bethesda, MD, USA., Bagheri H; Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, MD, USA., Katz JD; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Boehm M; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Brofferio A; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
المصدر: Vascular medicine (London, England) [Vasc Med] 2024 Jun; Vol. 29 (3), pp. 245-255. Date of Electronic Publication: 2024 Apr 03.
نوع المنشور: Journal Article; Clinical Trial
بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 9610930 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-0377 (Electronic) Linking ISSN: 1358863X NLM ISO Abbreviation: Vasc Med Subsets: MEDLINE
مواضيع طبية MeSH: Vascular Calcification*/drug therapy , Vascular Calcification*/diagnostic imaging , Etidronic Acid*/therapeutic use , Etidronic Acid*/adverse effects , 5'-Nucleotidase*/genetics , 5'-Nucleotidase*/deficiency , GPI-Linked Proteins*/blood, Humans ; Pilot Projects ; Male ; Female ; Middle Aged ; Treatment Outcome ; Time Factors ; Ankle Brachial Index ; Adult ; Bone Density Conservation Agents/therapeutic use ; Bone Density Conservation Agents/adverse effects ; Disease Progression ; Peripheral Arterial Disease/drug therapy ; Peripheral Arterial Disease/diagnosis ; Peripheral Arterial Disease/physiopathology ; Aged ; Lower Extremity/blood supply ; Computed Tomography Angiography ; Genetic Predisposition to Disease ; Regional Blood Flow
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9
المؤلفون: Cinar R; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Basu A; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Arif M; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.; Laboratory of Cardiovascular Physiology and Tissue Injury, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Park JK; Laboratory of Physiologic Studies, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852, USA., Zawatsky CN; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Zuo BLG; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Zuo MXG; Section on Fibrotic Disorders, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., O'Brien KJ; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Behan M; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Introne W; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Iyer MR; Section on Medicinal Chemistry, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA., Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Malicdan MCV; NIH Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Gochuico BR; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 17. Date of Electronic Publication: 2024 May 17.
نوع المنشور: Preprint
بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
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10دورية أكاديمية
المؤلفون: Veys K; Department of Pediatrics, University Hospitals Leuven, campus Gasthuisberg, Leuven, Belgium; Department of Development & Regeneration, Laboratory of Pediatric Nephrology, KU Leuven, campus Gasthuisberg, Leuven, Belgium., Elmonem MA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo 11628, Egypt., van den Heuvel L; Department of Development & Regeneration, Laboratory of Pediatric Nephrology, KU Leuven, campus Gasthuisberg, Leuven, Belgium., Gahl WA; National Genome Research Institute (NHGRI), National Institutes of Health, Medical Genetics Branch, 9000 Rockville Pike, Bethesda, MD 20892, United States., Levtchenko E; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, 1105, AZ, Amsterdam, the Netherlands. Electronic address: e.n.levtchenko@amsterdamumc.nl.
المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108454. Date of Electronic Publication: 2024 Mar 21.
نوع المنشور: Journal Article; Validation Study; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
مواضيع طبية MeSH: Cysteamine*/therapeutic use , Cystinosis*/drug therapy , Cystinosis*/blood , Hexosaminidases*/blood , Cystine*/blood, Humans ; Male ; Female ; Retrospective Studies ; Adolescent ; Child ; Adult ; Biomarkers/blood ; Young Adult ; Drug Monitoring/methods ; Cystine Depleting Agents/therapeutic use ; Child, Preschool ; Kidney Transplantation