Journal of Rare Disorders: Diagnosis & Therapy

Citation Index - Journal of Rare Disorders: Diagnosis & Therapy [14 Articles]

The articles published in Journal of Rare Disorders: Diagnosis & Therapy have been cited 14 times by eminent researchers all around the world. Following is the list of articles that have cited the articles published in Journal of Rare Disorders: Diagnosis & Therapy.

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  Peng SSF, Hwu WL, Lee NC, Tsai FJ, Tsai WH, et al. (2016) Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study. Orphanet journal of rare diseases 11: 63.

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  Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, et al. (2016) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Molecular Genetics and Metabolism, 118: 244-254.

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  Imrie J, Hptinstall L, Knight S, & Strong K (2015) Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database. BMC neurology, 15: 257.

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  Synofzik M, Fleszar Z, Schöls L, Just J, Bauer P, et al. (2016) Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools. Journal of Neurology. 263: 1911-1918.

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  Di Lazzaro V, Marano M, Florio L, De Santis S (2016) Niemann–Pick type C: focus on the adolescent/adult onset form. International Journal of Neuroscience. 126: 963-971.

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  Mengel E, Pineda M, Hendriksz CJ, Walterfang M, Torres J V, Kolb SA (2016) Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages. Molecular Genetics and Metabolism.

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  Vives Corrons JL (2016) Eurobloodnet: From Rare Anaemias to Rare Haematological Diseases, a Transitional Proposal for European Reference Network. J Rare Dis Diagn Ther 2: 4.

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  Racca JD, Chen YS, Yang Y, Phillips NB, Weiss MA (2016) Human sex determination at the edge of ambiguity inherited XY sex reversal due to enhanced ubiquitination and proteasomal degradation of a master transcription factor. Journal of Biological Chemistry 291: 22173-22195.

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  Pauer F, Litzkendorf S, Göbel J, Storf H, Zeidler J, et al. (2017) Rare Diseases on the Internet: An Assessment of the Quality of Online Information. Journal of Medical Internet Research 19: e23.

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  Schmidt K, Babac A, Pauer F, Damm K, von der Schulenburg JM (2016) Measuring patients’ priorities using the Analytic Hierarchy Process in comparison with Best-Worst-Scaling and rating cards: methodological aspects and ranking tasks. Health Economics Review 6: 50.

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  Lavin MF, Yeo AJ, Kijas AW, Wolvetang E, Sly PD, et al. (2016) Therapeutic targets and investigated treatments for Ataxia-Telangiectasia. Expert Opinion on Orphan Drugs 4: 1263-1276.

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  Pichiecchio A, Rossi M, Cinnante C, Colafati GS, Icco R (2017) Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes. Muscle & Nerve

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  Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I (2016) Angeborene Thoraxfehlbildung–Sternumaplasie (Sternal Cleft). Zeitschrift für Geburtshilfe und Neonatologie 220: 269-270.

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  Litzkendorf S, Pauer F, Zeidler J, Göbel J, Storf H (2017) Zentrales Informationsportal über seltene Erkrankungen. Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz 1-9.

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