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Items: 14

1.

Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score.

Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO.

Bone. 2019 May;122:76-81. doi: 10.1016/j.bone.2019.02.010. Epub 2019 Feb 14.

2.

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial.

Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA.

Lancet Diabetes Endocrinol. 2019 Mar;7(3):189-199. doi: 10.1016/S2213-8587(18)30338-3. Epub 2019 Jan 9.

PMID:
30638856
3.

Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points.

Theodore-Oklota C, Bonner N, Spencer H, Arbuckle R, Chen CY, Skrinar A.

Value Health. 2018 Aug;21(8):973-983. doi: 10.1016/j.jval.2018.01.013. Epub 2018 Jun 6.

4.

Burosumab Therapy in Children with X-Linked Hypophosphatemia.

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van't Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA.

N Engl J Med. 2018 May 24;378(21):1987-1998. doi: 10.1056/NEJMoa1714641.

5.

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.

Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H.

Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14.

6.

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale.

Mayhew J, Bonner N, Arbuckle R, Turnbull A, Bowden A, Skrinar A.

J Comp Eff Res. 2018 Apr;7(4):381-395. doi: 10.2217/cer-2017-0062. Epub 2017 Nov 15.

7.

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.

Chan YM, Lee P, Jungles S, Morris G, Cadaoas J, Skrinar A, Vellard M, Kakkis E.

PLoS One. 2017 Mar 7;12(3):e0173261. doi: 10.1371/journal.pone.0173261. eCollection 2017.

8.

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.

Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E.

J Neuromuscul Dis. 2016 Mar 3;3(1):49-66.

9.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE.

Mol Genet Metab. 2016 Jun;118(2):65-9. doi: 10.1016/j.ymgme.2016.04.006. Epub 2016 Apr 14.

10.

A randomized study of alglucosidase alfa in late-onset Pompe's disease.

van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA.

N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859.

11.

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS.

Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996.

PMID:
19287243
12.

Clinical features of late-onset Pompe disease: a prospective cohort study.

Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D, Laforet P.

Muscle Nerve. 2008 Oct;38(4):1236-45. doi: 10.1002/mus.21025.

PMID:
18816591
13.

Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.

Weinreb N, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM.

Clin Genet. 2007 Jun;71(6):576-88.

PMID:
17539908
14.

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J.

Mol Genet Metab. 2007 Apr;90(4):449-52. Epub 2007 Jan 31. Erratum in: Mol Genet Metab. 2007 Nov;92(3):285.

PMID:
17270480

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