نتائج البحث - "WA Gahl"

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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دورية أكاديمية

Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women.

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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دورية أكاديمية

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

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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دورية أكاديمية

Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).

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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Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

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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دورية أكاديمية

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

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

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