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1دورية أكاديمية
المؤلفون: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Galactose epimerase deficiency, Galactosemia type III, Galactosemias Network, Galactose-restricted diet, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig
المصدر: JIMD Reports, Vol 63, Iss 2, Pp 131-136 (2022)
مصطلحات موضوعية: CDG—chronic kidney disease, TLR—congenital disorder of glycosylation, PMM2—end stage renal disease, CKD—phosphomannosemutase‐2, ESRD—toll‐like receptor, UPC—urine protein‐to‐creatinine ratio, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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4دورية أكاديمية
المؤلفون: Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres
المصدر: JIMD Reports, Vol 62, Iss 1, Pp 30-34 (2021)
مصطلحات موضوعية: dysautonomia, Lesch–Nyhan syndrome, neuroleptic malignant syndrome, rhabdomyolysis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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5دورية أكاديمية
المؤلفون: Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry
المصدر: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
مصطلحات موضوعية: galactosemia, GALK1 deficiency, in vivo galactose oxidation, stable‐isotope labeled galactose, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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6دورية أكاديمية
المؤلفون: Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan
المصدر: JIMD Reports, Vol 54, Iss 1, Pp 3-8 (2020)
مصطلحات موضوعية: cardiomyopathy, heart failure, heart transplantation, liver transplantation, organic acid disorder, propionic acidemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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7دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100742- (2021)
مصطلحات موضوعية: Non-cirrhotic hyperammonemia, Urea cycle disorder, Magnetic resonance spectroscopy, Cerebral myo-inositol, Cerebral glutamine, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry
المصدر: JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
مصطلحات موضوعية: branched‐chain 2‐ketoacid dehydrogenase, developmental delay, lactic acidosis, PDP1, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase phosphatase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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9دورية أكاديمية
المؤلفون: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 23-29 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource