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Long-term weight loss after diet and exercise: a systematic review
Long-term weight loss after diet and exercise: a systematic review
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Long-term weight loss after diet and exercise: a systematic review

CURIONI, C. C ; LOURENCO, P. M

International Journal of Obesity, 2005-10, Vol.29 (10), p.1168-1174 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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2
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Germain, Dominique P ; Hughes, Derralynn A ; Nicholls, Kathleen ; Bichet, Daniel G ; Giugliani, Roberto ; Wilcox, William R ; Feliciani, Claudio ; Shankar, Suma P ; Ezgu, Fatih ; Amartino, Hernan ; Bratkovic, Drago ; Feldt-Rasmussen, Ulla ; Nedd, Khan ; Sharaf El Din, Usama ; Lourenco, Charles M ; Banikazemi, Maryam ; Charrow, Joel ; Dasouki, Majed ; Finegold, David ; Giraldo, Pilar ; Goker-Alpan, Ozlem ; Longo, Nicola ; Scott, C. Ronald ; Torra, Roser ; Tuffaha, Ahmad ; Jovanovic, Ana ; Waldek, Stephen ; Packman, Seymour ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Benjamin, Elfrida R ; Johnson, Franklin ; Lockhart, David J ; Skuban, Nina ; Castelli, Jeff ; Barth, Jay ; Barlow, Carrolee ; Schiffmann, Raphael

The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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3
Multi-system neurological disease is common in patients with OPA1 mutations
Multi-system neurological disease is common in patients with OPA1 mutations
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Multi-system neurological disease is common in patients with OPA1 mutations

Yu-Wai-Man, P. ; Griffiths, P.G. ; Gorman, G.S. ; Lourenco, C.M. ; Wright, A.F. ; Auer-Grumbach, M. ; Toscano, A. ; Musumeci, O. ; Valentino, M.L. ; Caporali, L. ; Lamperti, C. ; Tallaksen, C.M. ; Duffey, P. ; Miller, J. ; Whittaker, R.G. ; Baker, M.R. ; Jackson, M.J. ; Clarke, M.P. ; Dhillon, B. ; Czermin, B. ; Stewart, J.D. ; Hudson, G. ; Reynier, P. ; Bonneau, D. ; Marques, W. ; Lenaers, G. ; McFarland, R. ; Taylor, R.W. ; Turnbull, D.M. ; Votruba, M. ; Zeviani, M. ; Carelli, V. ; Bindoff, L.A. ; Horvath, R. ; Amati-Bonneau, P. ; Chinnery, P.F.

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786 [Periódico revisado por pares]

Oxford: Oxford University Press

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4
d-serine levels in Alzheimer's disease: implications for novel biomarker development
d-serine levels in Alzheimer's disease: implications for novel biomarker development
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d-serine levels in Alzheimer's disease: implications for novel biomarker development

Madeira, C ; Lourenco, M V ; Vargas-Lopes, C ; Suemoto, C K ; Brandão, C O ; Reis, T ; Leite, R E P ; Laks, J ; Jacob-Filho, W ; Pasqualucci, C A ; Grinberg, L T ; Ferreira, S T ; Panizzutti, R

Translational psychiatry, 2015-05, Vol.5 (5), p.e561 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Hughes, Derralynn A ; Nicholls, Kathleen ; Shankar, Suma P ; Sunder-Plassmann, Gere ; Koeller, David ; Nedd, Khan ; Vockley, Gerard ; Hamazaki, Takashi ; Lachmann, Robin ; Ohashi, Toya ; Olivotto, Iacopo ; Sakai, Norio ; Deegan, Patrick ; Dimmock, David ; Eyskens, François ; Germain, Dominique P ; Goker-Alpan, Ozlem ; Hachulla, Eric ; Jovanovic, Ana ; Lourenco, Charles M ; Narita, Ichiei ; Thomas, Mark ; Wilcox, William R ; Bichet, Daniel G ; Schiffmann, Raphael ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Johnson, Franklin ; Boudes, Pol ; Benjamin, Elfrida R ; Lockhart, David J ; Barlow, Carrolee ; Skuban, Nina ; Castelli, Jeffrey P ; Barth, Jay ; Feldt-Rasmussen, Ulla

Journal of medical genetics, 2017-04, Vol.54 (4), p.288-296 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
A multicenter case series documenting Medicare Part D plan denials of immunosuppressant drug coverage for organ transplant recipients
A multicenter case series documenting Medicare Part D plan denials of immunosuppressant drug coverage for organ transplant recipients
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A multicenter case series documenting Medicare Part D plan denials of immunosuppressant drug coverage for organ transplant recipients

Lushin, Erin N. ; McDermott, Jennifer K. ; Truax, Crystal ; Lourenco, Laura M. ; Mariski, Mark ; Melaragno, Jennifer I. ; Potter, Lisa M.

American journal of transplantation, 2021-02, Vol.21 (2), p.889-896 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy
Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy
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Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy

Lavigne Moreira, Carolina ; Marques, Vanessa D. ; Lourenço, Charles M. ; Cabrini, Daisy I. ; Nuñez, Jose C. ; Herrera, Ronaldo F. ; Marques Jr, Wilson

Journal of the peripheral nervous system, 2015-03, Vol.20 (1), p.60-62 [Periódico revisado por pares]

Malden, USA: Wiley Periodicals, Inc

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8
Detection of copy number variations in epilepsy using exome data
Detection of copy number variations in epilepsy using exome data
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Detection of copy number variations in epilepsy using exome data

Tsuchida, N. ; Nakashima, M. ; Kato, M. ; Heyman, E. ; Inui, T. ; Haginoya, K. ; Watanabe, S. ; Chiyonobu, T. ; Morimoto, M. ; Ohta, M. ; Kumakura, A. ; Kubota, M. ; Kumagai, Y. ; Hamano, S.‐I. ; Lourenco, C.M. ; Yahaya, N.A. ; Ch'ng, G.‐S. ; Ngu, L.‐H. ; Fattal‐Valevski, A. ; Weisz Hubshman, M. ; Orenstein, N. ; Marom, D. ; Cohen, L. ; Goldberg‐Stern, H. ; Uchiyama, Y. ; Imagawa, E. ; Mizuguchi, T. ; Takata, A. ; Miyake, N. ; Nakajima, H. ; Saitsu, H. ; Miyatake, S. ; Matsumoto, N.

Clinical genetics, 2018-03, Vol.93 (3), p.577-587 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism

Lourenço, Delmar M ; Coutinho, Flavia L ; Toledo, Rodrigo A ; Montenegro, Fabio LM ; Correia‐Deur, Joya EM ; Toledo, Sergio PA

Journal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Determinants of white matter hyperintensity burden in patients with Fabry disease
Determinants of white matter hyperintensity burden in patients with Fabry disease
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Determinants of white matter hyperintensity burden in patients with Fabry disease

Rost, Natalia S ; Cloonan, Lisa ; Kanakis, Allison S ; Fitzpatrick, Kaitlin M ; Azzariti, Danielle R ; Clarke, Virginia ; Lourenco, Charles M ; Germain, Dominique P ; Politei, Juan M ; Homola, György A ; Sommer, Claudia ; Üçeyler, Nurcan ; Sims, Katherine B

Neurology, 2016-05, Vol.86 (20), p.1880-1886 [Periódico revisado por pares]

United States: American Academy of Neurology

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