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.
	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.
	View at Publisher \| View at Google Scholar
	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.Â Molecular Genetics and Metabolism,Â 118: 244-254.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.Â Molecular Genetics and Metabolism.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	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.
	View at Publisher \| View at Google Scholar
	Pichiecchio A, Rossi M, Cinnante C, Colafati GS, Icco R (2017) Muscle MRI of classic infantile pompe patients: Fatty substitution and edemaâlike changes.Â Muscle & Nerve
	View at Publisher \| View at Google Scholar
	Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I (2016) Angeborene Thoraxfehlbildung–Sternumaplasie (Sternal Cleft). Zeitschrift für Geburtshilfe und Neonatologie 220: 269-270.
	View at Publisher \| View at Google Scholar
	Litzkendorf S, Pauer F, Zeidler J, GÃ¶bel J, Storf H (2017) Zentrales Informationsportal Ã¼ber seltene Erkrankungen.Â Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz 1-9.
	View at Publisher \| View at Google Scholar

Tweets by rare_disorders

Abstracted/Indexed in

Index Copernicus
China National Knowledge Infrastructure (CNKI)
Directory of Research Journal Indexing (DRJI)
Publons
Secret Search Engine Labs

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.

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.

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.Â Molecular Genetics and Metabolism,Â 118: 244-254.

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.

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.

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.

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.Â Molecular Genetics and Metabolism.

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.

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.

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.

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.

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.

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

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

Litzkendorf S, Pauer F, Zeidler J, GÃ¶bel J, Storf H (2017) Zentrales Informationsportal Ã¼ber seltene Erkrankungen.Â Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz 1-9.

Abstracted/Indexed in

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