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Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108150-108150, Article 108150
2024
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Science translational medicine, 2022-05, Vol.14 (646), p.eabn4772
2022
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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.193-214
2021
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Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108148-108148, Article 108148
2024
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Pediatric research, 2007-08, Vol.62 (2), p.225-230
2007
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The Journal of biological chemistry, 2015-07, Vol.290 (30), p.18671-18677
2015
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Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.829
2015
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Journal of medical case reports, 2024-02, Vol.18 (1), p.73-73
2024
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Human pathology, 2017-04, Vol.62, p.160-169
2017
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European journal of pediatrics, 2019-03, Vol.178 (3), p.387-394
2019
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The New England journal of medicine, 2005-11, Vol.353 (18), p.1926-1933
2005
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Genetics in medicine, 2021-08, Vol.23 (8), p.1522
- Manoli, Irini
- Pass, Alexandra R
- Harrington, Elizabeth A
- Sloan, Jennifer L
- Gagné, Jack
- McCoy, Samantha
- Bell, Sarah L
- Hattenbach, Jacob D
- Leitner, Brooks P
- Duckworth, Courtney J
- Fletcher, Laura A
- Cassimatis, Thomas M
- Galarreta, Carolina I
- Thurm, Audrey
- Snow, Joseph
- Van Ryzin, Carol
- Ferry, Susan
- Mew, Nicholas Ah
- Shchelochkov, Oleg A
- Chen, Kong Y
- Venditti, Charles P
2021
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Neurology, 2012-07, Vol.79 (1), p.47
2012
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Biochimica et biophysica acta, 2013-12, Vol.1830 (12), p.5494-5502
2013
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Journal of pediatric endocrinology & metabolism : JPEM, 2019-10, Vol.32 (10), p.1181
2019
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Zhonghua yi xue yi chuan xue za zhi, 2021-01, Vol.38 (1), p.1
2021
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Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2017-10, Vol.49 (5), p.768
2017
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Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2017-05, Vol.46 (3), p.233-239
2017
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La Presse médicale (1983), 2012-03, Vol.41 (3), p.e115-e135
2012
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Medical journal of Malaysia, 2019-04, Vol.74 (2), p.174-175
2019
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Zhongguo dang dai er ke za zhi, 2018-08, Vol.20 (8), p.647-651
2018
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Pediatrics (Evanston), 2013-07, Vol.132 (1), p.e257
2013
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