المؤلفون: Karen A. Sanders, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Silvia Tortorelli, John J. Hopwood, Fred Lorey, Ramanath Majumdar, Charles A. Kroll, Amber M. McDonald, Jean M. Lacey, Coleman T. Turgeon, Justin N. Tucker, Hao Tang, Robert Currier, Grazia Isaya, Piero Rinaldo, Dietrich Matern

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 2, p 44 (2020)

مصطلحات موضوعية: newborn screening, Fabry disease, Gaucher disease, mucopolysaccharidosis type I, Pompe disease, tandem mass spectrometry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/6/2/44; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/66e4a898e05e487fa194cc076302a01f

المؤلفون: Mostafa Fekry, Wessen Alshokry, Przemysław Grela, Marek Tchórzewski, Eva-Christina Ahlgren, Christopher A Söderberg, Oleksandr Gakh, Grazia Isaya, Salam Al-Karadaghi

المصدر: PLoS ONE, Vol 12, Iss 9, p e0184961 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5607177?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/276fdaea55a847fbbeb8f205105b7a57

المؤلفون: Eva-Christina Ahlgren, Mostafa Fekry, Mathias Wiemann, Christopher A Söderberg, Katja Bernfur, Olex Gakh, Morten Rasmussen, Peter Højrup, Cecilia Emanuelsson, Grazia Isaya, Salam Al-Karadaghi

المصدر: PLoS ONE, Vol 12, Iss 12, p e0188937 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5714350?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b6b16bcc6c0e436e8309d9dfeed6c48d

المؤلفون: Lyudmila I. Ashmarina, Alexey V. Pshezhetsky, Steven S. Branda, Grazia Isaya, Grant A. Mitchell

المصدر: Journal of Lipid Research, Vol 40, Iss 1, Pp 70-75 (1999)

مصطلحات موضوعية: ketoacid lyases, hydroxymethylglutaryl CoA, ketone bodies, amino acid metabolism, inborn errors, mitochondria, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S002222752033340X; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/6d88cbf31c0f454382ac88b4b7f2415f

المؤلفون: Amber McDonald, Devin Oglesbee, Ramanath Majumdar, Charles A. Kroll, Fred Lorey, Grazia Isaya, Hao Tang, Piero Rinaldo, Dimitar Gavrilov, Karen A. Sanders, Kimiyo Raymond, Jean M. Lacey, Silvia Tortorelli, Robert J. Currier, Dietrich Matern, Coleman T. Turgeon, Justin N. Tucker, John J. Hopwood

المصدر: International Journal of Neonatal Screening, Vol 6, Iss 44, p 44 (2020)
International journal of neonatal screening
International Journal of Neonatal Screening
Volume 6
Issue 2

مصطلحات موضوعية: 0301 basic medicine, microfluidics, Lysosomal storage disorders, Computational biology, Gaucher disease, 030105 genetics & heredity, Article, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), tandem mass spectrometry, Medicine, post-analytical interpretation, Multiplex, immunoassay, Newborn screening, Fabry disease, medicine.diagnostic_test, business.industry, newborn screening, Molecular genetic testing, mucopolysaccharidosis type I, lcsh:RJ1-570, Obstetrics and Gynecology, Pompe disease, lcsh:Pediatrics, bioinformatics, medicine.disease, Dried blood spot, Immunoassay, Pediatrics, Perinatology and Child Health, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec07cb5893f268d80848415956ce220
https://www.mdpi.com/2409-515X/6/2/44

المؤلفون: Oleksandr Gakh, James R. Thompson, Douglas Y. Smith, Belinda K. Galeano, Grazia Isaya, Wasantha Ranatunga

المصدر: Metallomics. 9:773-801

مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Stereochemistry, Dimer, Saccharomyces cerevisiae, Biophysics, chemistry.chemical_element, Zinc, Biochemistry, Biomaterials, 03 medical and health sciences, chemistry.chemical_compound, Protein structure, Oxidoreductase, chemistry.chemical_classification, 030102 biochemistry & molecular biology, biology, Cysteine desulfurase, Metals and Alloys, biology.organism_classification, Crystallography, 030104 developmental biology, chemistry, Chemistry (miscellaneous), Frataxin, biology.protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4fab9c8d9efee336475690452eb417fb
https://doi.org/10.1039/c7mt00089h

المؤلفون: Oleksandr Gakh, Wasantha Ranatunga, Eva-Christina Ahlgren, Douglas Y. Smith, James R. Thompson, Grazia Isaya, Salam Al-Karadaghi

المصدر: Journal of Biological Chemistry. 291:21296-21321

مصطلحات موضوعية: Iron-Sulfur Proteins, 0301 basic medicine, Iron-sulfur cluster assembly, Trimer, Molecular Dynamics Simulation, Biochemistry, Mitochondrial Proteins, Hydrophobic effect, 03 medical and health sciences, Protein structure, Iron-Binding Proteins, Cluster (physics), Humans, Molecular Biology, biology, Hydrogen bond, Chemistry, Iron-Regulatory Proteins, Molecular Bases of Disease, Cell Biology, Recombinant Proteins, Carbon-Sulfur Lyases, Crystallography, 030104 developmental biology, biology.protein, ISCU, Macromolecule

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfac91c33ef787f47c2ad7c70ee56901
https://doi.org/10.1074/jbc.m116.738542

المؤلفون: Grazia Isaya, Wasantha Ranatunga, Belinda K. Galeano, Salam Al-Karadaghi, Oleksandr Gakh, Douglas Y. Smith, Christopher A. G. Söderberg, James R. Thompson

المصدر: Journal of Biological Chemistry. 291:10378-10398

مصطلحات موضوعية: 0301 basic medicine, Scaffold protein, Iron-sulfur cluster assembly, 030102 biochemistry & molecular biology, Molecular model, Stereochemistry, Cysteine desulfurase, chemistry.chemical_element, Trimer, Cell Biology, Biochemistry, Sulfur, 03 medical and health sciences, Crystallography, 030104 developmental biology, chemistry, Cluster (physics), Molecular Biology, Macromolecule

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::699597b77acb7637ccc81b9b25585094
https://doi.org/10.1074/jbc.m115.712414

المؤلفون: Grazia Isaya, Eva-Christina Ahlgren, Christopher G. Soderberg, Gregory A. Hunter, Salam Al-Karadaghi, Gloria C. Ferreira, Mallory E. Gillam, Oleksandr Gakh

المصدر: Journal of Biological Chemistry. 291:11887-11898

مصطلحات موضوعية: 0301 basic medicine, biology, Dimer, Protein subunit, Trimer, Cell Biology, Ferrochelatase, Biochemistry, Porphyrin, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Protein structure, chemistry, Frataxin, biology.protein, Biophysics, Molecular Biology, Heme, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41f6ab417b6211df0ca75764ce75a8f9
https://doi.org/10.1074/jbc.m115.701128

المؤلفون: Oleksandr, Gakh, Wasantha, Ranatunga, Belinda K, Galeano, Douglas S, Smith, James R, Thompson, Grazia, Isaya

المصدر: Methods in enzymology. 595

مصطلحات موضوعية: Iron-Sulfur Proteins, Models, Molecular, Iron, Iron-Regulatory Proteins, Recombinant Proteins, Mitochondria, Mitochondrial Proteins, Carbon-Sulfur Lyases, Iron-Binding Proteins, Multiprotein Complexes, Escherichia coli, Humans, Sulfur, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::98a882114d9ae8fa9d6fa1549b44c264
https://pubmed.ncbi.nlm.nih.gov/28882199