Abe, Yohei; Kofman, Eric R.; Almeida, Maria; Ouyang, Zhengyu; Ponte, Filipa; Mueller, Jasmine R.; Cruz-Becerra, Grisel; Sakai, Mashito; Prohaska, Thomas A.; Spann, Nathanael J.; Resende-Coelho, Ana; Seidman, Jason S.; Stender, Joshua D.; Taylor, Havilah; Fan, Weiwei; Link, Verena M.; Cobo, Isidoro; Schlachetzki, Johannes C. M.; Hamakubo, Takao; Jepsen, Kristen; Sakai, Juro; Downes, Michael; Evans, Ronald M.; Yeo, Gene W.; Kadonaga, James T.; Manolagas, Stavros C.; Rosenfeld, Michael G.; Glass, Christopher K.

Association between Visceral and Bone Marrow Adipose Tissue and Bone Quality in Sedentary and Physically Active Ovariectomized Wistar Rats

久坐和身体活动的去卵巢Wistar大鼠的内脏和骨髓脂肪组织与骨骼质量之间的关系

LIFE-BASEL

IF3.4

2021-05-253

OAAI

Current and Future Treatments for Classic Galactosemia

JOURNAL OF PERSONALIZED MEDICINE

IF3

2021-01-2829

OAAI

The natural history of classic galactosemia: lessons from the GalNet registry

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-04-2799

OAAI

Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Haberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Moeslinger, D.; Mueller-Wieland, D.; Murphy, E.; Ounap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-11-2612

OAAI

Hereditary galactosemia

METABOLISM-CLINICAL AND EXPERIMENTAL

IF11.9

2018-06-0177

PREAI

Functional correction by antisense therapy of a splicing mutation in the GALT gene

EUROPEAN JOURNAL OF HUMAN GENETICS