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Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. [electronic resource] by
- Pogoryelova, Oksana
- Cammish, Phillip
- Mansbach, Hank
- Argov, Zohar
- Nishino, Ichizo
- Skrinar, Alison
- Chan, Yiumo
- Nafissi, Shahriar
- Shamshiri, Hosein
- Kakkis, Emil
- Lochmüller, Hanns
Producer: 20191114
In:
Neuromuscular disorders : NMD vol. 28
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23.
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Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy. [electronic resource] by
- Valles-Ayoub, Yadira
- Esfandiarifard, Saghi
- Sinai, Pedram
- Carbajo, Rosangela
- Khokher, Zeshan
- No, Daniel
- Pietruszka, Marvin
- Darvish, Babak
- Kakkis, Emil
- Darvish, Daniel
Producer: 20121010
In:
Genetic testing and molecular biomarkers vol. 16
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24.
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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. [electronic resource] by
- Kakkis, Emil D
- O'Donovan, Mary
- Cox, Gerald
- Hayes, Mark
- Goodsaid, Federico
- Tandon, P K
- Furlong, Pat
- Boynton, Susan
- Bozic, Mladen
- Orfali, May
- Thornton, Mark
Producer: 20160121
In:
Orphanet journal of rare diseases vol. 10
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25.
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A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. [electronic resource] by
- Sifuentes, Monica
- Doroshow, Robin
- Hoft, Richard
- Mason, Greg
- Walot, Irwin
- Diament, Michael
- Okazaki, Susan
- Huff, Kenneth
- Cox, Gerald F
- Swiedler, Stuart J
- Kakkis, Emil D
Producer: 20070329
In:
Molecular genetics and metabolism vol. 90
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26.
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Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. [electronic resource] by
- Munoz-Rojas, Maria-Veronica
- Vieira, Taiane
- Costa, Ronaldo
- Fagondes, Simone
- John, Angela
- Jardim, Laura Bannach
- Vedolin, Leonardo M
- Raymundo, Marcia
- Dickson, Patricia I
- Kakkis, Emil
- Giugliani, Roberto
Producer: 20081113
In:
American journal of medical genetics. Part A vol. 146A
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27.
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A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. [electronic resource] by
- Giugliani, Roberto
- Rojas, Verónica Muñoz
- Martins, Ana Maria
- Valadares, Eugênia R
- Clarke, Joe T R
- Góes, José E C
- Kakkis, Emil D
- Worden, Mary Alice
- Sidman, Marisa
- Cox, Gerald F
Producer: 20090121
In:
Molecular genetics and metabolism vol. 96
Availability: No items available.
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28.
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Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs. [electronic resource] by
- Vera, Moin
- Lester, Thomas
- Zhao, Bin
- Tiger, Pascale
- Clarke, Scott
- Tippin, Brigette L
- Passage, Merry B
- Le, Steven Q
- Femenia, Javier
- Lemontt, Jeffrey F
- Kakkis, Emil D
- Dickson, Patricia I
Producer: 20130225
In:
JIMD reports vol. 8
Availability: No items available.
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29.
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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. [electronic resource] by
- Clarke, Lorne A
- Wraith, J Edmond
- Beck, Michael
- Kolodny, Edwin H
- Pastores, Gregory M
- Muenzer, Joseph
- Rapoport, David M
- Berger, Kenneth I
- Sidman, Marisa
- Kakkis, Emil D
- Cox, Gerald F
Producer: 20090206
In:
Pediatrics vol. 123
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Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. [electronic resource] by
- Muñoz-Rojas, María Verónica
- Horovitz, Dafne Dain Gandelman
- Jardim, Laura Bannach
- Raymundo, Marcia
- Llerena, Juan Clinton
- de Magalhães, Tatiana de Sá Carneiro Pacheco
- Vieira, Taiane Alves
- Costa, Ronaldo
- Kakkis, Emil
- Giugliani, Roberto
Producer: 20100712
In:
Molecular genetics and metabolism vol. 99
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31.
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A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. [electronic resource] by
- Lochmüller, Hanns
- Behin, Anthony
- Caraco, Yoseph
- Lau, Heather
- Mirabella, Massimiliano
- Tournev, Ivailo
- Tarnopolsky, Mark
- Pogoryelova, Oksana
- Woods, Catherine
- Lai, Alexander
- Shah, Jinay
- Koutsoukos, Tony
- Skrinar, Alison
- Mansbach, Hank
- Kakkis, Emil
- Mozaffar, Tahseen
Producer: 20191218
In:
Neurology vol. 92
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32.
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Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD). [electronic resource] by
- Vockley, Jerry
- Burton, Barbara
- Berry, Gerard T
- Longo, Nicola
- Phillips, John
- Sanchez-Valle, Amarilis
- Tanpaiboon, Pranoot
- Grunewald, Stephanie
- Murphy, Elaine
- Bowden, Alexandra
- Chen, Wencong
- Chen, Chao-Yin
- Cataldo, Jason
- Marsden, Deborah
- Kakkis, Emil
Producer: 20200401
In:
Journal of inherited metabolic disease vol. 42
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33.
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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. [electronic resource] by
- Mosca, Rosario
- van de Vlekkert, Diantha
- Campos, Yvan
- Fremuth, Leigh E
- Cadaoas, Jaclyn
- Koppaka, Vish
- Kakkis, Emil
- Tifft, Cynthia
- Toro, Camilo
- Allievi, Simona
- Gellera, Cinzia
- Canafoglia, Laura
- Visser, Gepke
- Annunziata, Ida
- d'Azzo, Alessandra
Publication details: Journal of clinical medicine 03 2020
In:
Journal of clinical medicine vol. 9
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34.
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Burosumab Therapy in Children with X-Linked Hypophosphatemia. [electronic resource] by
- Carpenter, Thomas O
- Whyte, Michael P
- Imel, Erik A
- Boot, Annemieke M
- Högler, Wolfgang
- Linglart, Agnès
- Padidela, Raja
- Van't Hoff, William
- Mao, Meng
- Chen, Chao-Yin
- Skrinar, Alison
- Kakkis, Emil
- San Martin, Javier
- Portale, Anthony A
Producer: 20180604
In:
The New England journal of medicine vol. 378
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35.
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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). [electronic resource] by
- Wraith, James E
- Clarke, Lorne A
- Beck, Michael
- Kolodny, Edwin H
- Pastores, Gregory M
- Muenzer, Joseph
- Rapoport, David M
- Berger, Kenneth I
- Swiedler, Stuart J
- Kakkis, Emil D
- Braakman, Tanja
- Chadbourne, Elenie
- Walton-Bowen, Karen
- Cox, Gerald F
Producer: 20040603
In:
The Journal of pediatrics vol. 144
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36.
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Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. [electronic resource] by
- Harmatz, Paul
- Giugliani, Roberto
- Schwartz, Ida
- Guffon, Nathalie
- Teles, Elisa Leão
- Miranda, M Clara Sá
- Wraith, J Edmond
- Beck, Michael
- Arash, Laila
- Scarpa, Maurizio
- Yu, Zi-Fan
- Wittes, Janet
- Berger, Kenneth I
- Newman, Mary S
- Lowe, Ann M
- Kakkis, Emil
- Swiedler, Stuart J
Producer: 20060613
In:
The Journal of pediatrics vol. 148
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37.
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Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. [electronic resource] by
- Trefz, Friedrich K
- Burton, Barbara K
- Longo, Nicola
- Casanova, Mercedes Martinez-Pardo
- Gruskin, Daniel J
- Dorenbaum, Alex
- Kakkis, Emil D
- Crombez, Eric A
- Grange, Dorothy K
- Harmatz, Paul
- Lipson, Mark H
- Milanowski, Andrzej
- Randolph, Linda Marie
- Vockley, Jerry
- Whitley, Chester B
- Wolff, Jon A
- Bebchuk, Judith
- Christ-Schmidt, Heidi
- Hennermann, Julia B
Producer: 20090505
In:
The Journal of pediatrics vol. 154
Availability: No items available.
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