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2,825 authors found
quering by "Galactosemia"
.
Showing
the first 25
sort by ONE Index.
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891
One Index
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Monnier, Vincent PhD 0000-0002-4894-3142 |
295 docs (1976 - 2024)
Pentosidine , Advanced Glycation End Products , Diabetes , Crystallin , Advanced glycation end-product |
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891
One Index
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Welt, Corrine PhD 0000-0002-8219-5504 |
141 docs (1997 - 2024)
Polycystic Ovary Syndrome , Hyperandrogenism , Genome-wide association study , Gonadotropin , Follistatin |
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887
One Index
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Yu, Timothy PhD 0000-0003-2988-7701 |
174 docs (1997 - 2024)
Galactosemia , Autism , Exome , Proband , Microcephaly |
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887
One Index
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Ounap, Katrin PhD 0000-0002-4594-6364 |
262 docs (1996 - 2024)
Copy Number Variation , Proband , Inborn Errors of Metabolism , Compound heterozygosity , Haploinsufficiency |
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884
One Index
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Derks, Terry PhD 0000-0002-7259-1095 |
143 docs (2002 - 2024)
Glycogen Storage Diseases , Inborn Errors of Metabolism , Acyl CoA dehydrogenase , Newborn Screening , Empagliflozin |
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880
One Index
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Mukhtar, Hasan PhD 0000-0002-5358-077X |
759 docs (1969 - 2024)
Green Tea , Tea Polyphenols , Fisetin , Cancer Therapy , Photodynamic Therapy |
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872
One Index
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PhD 0000-0003-0914-7757 |
385 docs (1995 - 2024)
Ovarian Tissue Cryopreservation , Fertility Preservation , Ovarian reserve , Letrozole , Oocyte cryopreservation |
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872
One Index
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Morava, Eva PhD 0000-0001-7441-700X |
646 docs (1964 - 2024)
Inborn Errors of Metabolism , Glycosylation , Cutis laxa , Protein Glycosylation , Mitochondrial disease |
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871
One Index
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Isselbacher, Kurt PhD 0000-0002-8527-5120 |
391 docs (1953 - 2020)
Intestinal mucosa , Metabolism , Glutamine Transport , Inborn Errors of Metabolism , Galactosemia |
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867
One Index
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Rudd, Pauline PhD 0000-0003-3880-0532 |
456 docs (1975 - 2024)
Protein Glycosylation , Glycosylation , Glycosylation Mechanisms , Glycomics , Glycome |
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861
One Index
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Stambolian, Dwight PhD |
239 docs (1977 - 2024)
Macular Degeneration , Genome-wide association study , Myopia , Linkage (software) , Genetic linkage |
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856
One Index
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Parenti, Giancarlo PhD 0000-0002-6287-5748 |
300 docs (1947 - 2024)
Lysosomal Storage Disorders , Glycogen Storage Diseases , Inborn Errors of Metabolism , Enzyme Replacement Therapy , Lysosomal storage disease |
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855
One Index
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He, Miao PhD 0000-0003-0731-6801 |
267 docs (2003 - 2024)
Neocortex , Glycosylation , Forebrain , Interneuron , Cortical Development |
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855
One Index
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Francine Ratner Kaufman PhD |
420 docs (1979 - 2024)
Diabetes , Continuous Glucose Monitoring , Type 1 Diabetes , Insulin Therapy , Glycemic Control |
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851
One Index
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Beutler, Ernest. PhD |
947 docs (1952 - 2021)
Glucose-6-Phosphate Dehydrogenase Deficiency , Gaucher Disease , Hereditary hemochromatosis , Red Cell , erythrocyte |
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849
One Index
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Harvey L. Levy PhD |
418 docs (1936 - 2024)
Inborn Errors of Metabolism , Phenylketonuria , Hyperphenylalaninemia , Newborn Screening , Homocystinuria |
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848
One Index
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Berry, Gerard PhD 0000-0001-5299-3313 |
343 docs (1961 - 2024)
Galactosemia , Inborn Errors of Metabolism , Glucose-6-Phosphate Dehydrogenase Deficiency , Hyperammonemia , Glucose Transporter Deficiency |
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847
One Index
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Hollak, Carla PhD 0000-0003-0464-1078 |
383 docs (1991 - 2024)
Gaucher Disease , Fabry Disease , Enzyme Replacement Therapy , Lysosomal Storage Disorders , Gaucher's disease |
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846
One Index
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Mao, Rong PhD 0000-0002-1236-0252 |
241 docs (1993 - 2024)
Inborn Errors of Metabolism , Exome Sequencing , Proband , Exome , Clinical Genomics |
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844
One Index
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Wortmann, Saskia PhD 0000-0002-1968-8103 |
217 docs (1997 - 2024)
Inborn Errors of Metabolism , Mitochondrial disease , Mitochondrial Function , Mitochondrial Dysfunction , Exome |
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843
One Index
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Scholl-Bürgi, Sabine PhD 0000-0002-2529-4231 |
197 docs (2004 - 2024)
Inborn Errors of Metabolism , Propionic acidemia , Ketogenic Diet , Metabolic Syndrome , Tolerability |
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840
One Index
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Pras-Raves, Mia PhD 0000-0002-5624-8094 |
40 docs (2014 - 2024)
Lipidome , Metabolome , Metabolomics , Pharmacometabolomics , Human Metabolome Database |
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839
One Index
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Wijburg, Frits PhD 0000-0002-0950-1368 |
413 docs (1977 - 2024)
Mucopolysaccharidoses , Inborn Errors of Metabolism , Mucopolysaccharidosis , Mucopolysaccharidosis type I , Fabry Disease |
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838
One Index
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Yue, Wyatt PhD 0000-0001-6959-6007 |
130 docs (2000 - 2024)
Inborn Errors of Metabolism , Enzyme Structure , Frataxin , Mutase , RNA methylation |
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837
One Index
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Berry, Susan PhD 0000-0001-7970-688X |
449 docs (1948 - 2024)
Inborn Errors of Metabolism , Phenylketonuria , Newborn Screening , Hyperphenylalaninemia , Hyperammonemia |
