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1دورية أكاديمية
المؤلفون: Curtis Gravance, Drago Bratkovic, David Ketteridge, Michael Imperiale, Ravi Krishnan, Divya Navuru
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100026- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000262Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Maria Fuller, David Ketteridge
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)
مصطلحات موضوعية: amniotic fluid, hunter syndrome, iduronate 2‐sulfatase, lysosomal storage disorder, mucopolysaccharidosis type II, prenatal diagnosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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3دورية أكاديمية
المؤلفون: Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
مصطلحات موضوعية: efficacy, elosulfase alfa, enzyme replacement therapy, mucopolysaccharidosis IVA, Morquio A syndrome, safety, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100303&tlng=enTest; https://doaj.org/toc/2326-4594Test
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4دورية أكاديمية
المؤلفون: Adrian Quartel MD, Paul R. Harmatz MD, Christina Lampe MD, Nathalie Guffon MD, David Ketteridge MD, Elisa Leão-Teles MD, Simon A. Jones MD, Roberto Giugliani MD, PhD
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2326-4594Test
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5
المؤلفون: Tzu-Ling Lin, David Ketteridge, Mini Michael, Runolfur Palsson, Peter R. Rich, Vidar O. Edvardsson, David S. Goldfarb, John A. Sayer, Hrafnhildur Linnet Runolfsdottir
المصدر: Urolithiasis
مصطلحات موضوعية: Adult, Male, Nephrology, endocrine system, medicine.medical_specialty, Adolescent, Urology, Adenine Phosphoribosyltransferase, 030232 urology & nephrology, Adenine phosphoribosyltransferase, Stone analysis, Article, Ftir spectra, Kidney Calculi, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Urolithiasis, Internal medicine, medicine, Humans, Child, Retrospective Studies, business.industry, Adenine, Reproducibility of Results, Middle Aged, medicine.disease, chemistry, Kidney stone analysis, Child, Preschool, Female, lipids (amino acids, peptides, and proteins), Kidney stones, business, Metabolism, Inborn Errors, 2,8-Dihydroxyadenine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::332988b51622f033b5a28213f64a889bTest
https://doi.org/10.1007/s00240-020-01187-6Test -
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المؤلفون: Damian Clark, Nicole Williams, David Ketteridge, Prajay Patel, Georgia Antoniou
المصدر: Journal of Child Neurology
مصطلحات موضوعية: musculoskeletal diseases, Pediatrics, medicine.medical_specialty, pediatrics, Mucopolysaccharidosis, carpal tunnel syndrome, Physical examination, 03 medical and health sciences, 0302 clinical medicine, decompression surgery, Mucopolysaccharidosis I, Screening method, Medicine, In patient, Carpal tunnel syndrome, 030222 orthopedics, medicine.diagnostic_test, business.industry, Original Articles, medicine.disease, mucopolysaccharidoses, nervous system diseases, body regions, Young age, inborn genetic diseases, Pediatrics, Perinatology and Child Health, Neurology (clinical), High incidence, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e290a49723e5b06039a1e03e8c9e39ecTest
http://europepmc.org/articles/PMC7153223Test -
7
المؤلفون: Johan L.K. Van Hove, David M. Mirsky, Leighann Sremba, Susan A. Berry, Erica L. Wright, David Watkins, David Ketteridge, Hoanh Nguyen, Shawn E. McCandless, Austin Larson, Kimberly A. Kripps, Peter R. Baker, David S. Rosenblatt
المصدر: Journal of inherited metabolic diseaseREFERENCES. 45(2)
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Encephalopathy, 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase, chemistry.chemical_compound, Methionine, Genetics, medicine, Humans, Methionine synthase, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Newborn screening, biology, business.industry, medicine.disease, Hypotonia, Vitamin B 12, Early Diagnosis, chemistry, Inborn error of metabolism, biology.protein, Macrocytic anemia, medicine.symptom, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a470ab5ae9bb30e6c27f532ae97e628Test
https://pubmed.ncbi.nlm.nih.gov/34625984Test -
8
المؤلفون: Eleanor Last, David Ketteridge, David Moore
المصدر: Journal of Paediatrics and Child Health. 58:1450-1451
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, business, Gestational alloimmune liver disease, Gastroenterology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::627d6f9b17e469038647d3d9057fe115Test
https://doi.org/10.1111/jpc.15828Test -
9
المؤلفون: David Ketteridge, Maria Fuller
المصدر: JIMD Reports
JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)مصطلحات موضوعية: Amniotic fluid, Endocrinology, Diabetes and Metabolism, Case Report, Prenatal diagnosis, Case Reports, QH426-470, Biology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Exon, Multiple sulfatase deficiency, Genetics, Internal Medicine, medicine, Mucopolysaccharidosis type II, prenatal diagnosis, Sulfatase, amniotic fluid, Iduronate-2-sulfatase, Hunter syndrome, mucopolysaccharidosis type II, RC648-665, medicine.disease, iduronate 2‐sulfatase, hunter syndrome, Immunology, lysosomal storage disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d366e268fb17c47979ecd294d745a032Test
https://doi.org/10.1002/jmd2.12214Test -
10
المؤلفون: David Ketteridge, Nicole Williams
المصدر: Journal of child neurology. 35(14)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Mucopolysaccharidosis, Neural Conduction, Mucopolysaccharidoses, medicine.disease, Carpal Tunnel Syndrome, Surgery, Pediatrics, Perinatology and Child Health, Medicine, Humans, In patient, Neurology (clinical), business, Carpal tunnel syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf587af67b7040eb652265287b8e8d61Test
https://pubmed.ncbi.nlm.nih.gov/32790517Test