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Orphanet Journal of Rare Diseases

OJRD reviews

Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein:

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease
Ari Zimran, Michael Wajnrajch, Betina Hernandez and Gregory M. Pastores
Orphanet Journal of Rare Diseases 2018 13:36
Published on: 23 February 2018

Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
Arianna Di Stadio, Valentina Pegoraro, Laura Giaretta, Laura Dipietro, Roberta Marozzo and Corrado Angelini
Orphanet Journal of Rare Diseases 2018 13:35
Published on: 21 February 2018

Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR
Trevor Richter, Ghayath Janoudi, William Amegatse and Sandra Nester-Parr
Orphanet Journal of Rare Diseases 2018 13:15
Published on: 1 February 2018

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins and Joseph J. Orsini
Orphanet Journal of Rare Diseases 2018 13:30
Published on: 1 February 2018

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes
Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro and Yann Nadjar
Orphanet Journal of Rare Diseases 2018 13:29
Published on: 1 February 2018

An overview of the impact of rare disease characteristics on research methodology
Danielle Whicher, Sarah Philbin and Naomi Aronson
Orphanet Journal of Rare Diseases 2018 13:14
Published on: 19 January 2018

Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii and Yukio Ando
Orphanet Journal of Rare Diseases 2018 13:6
Published on: 17 January 2018

Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation
John W. Frew, Mark Davidson and Dedee F. Murrell
Orphanet Journal of Rare Diseases 2017 12:189
Published on: 29 December 2017

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review
Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani and Tania Stafinski
Orphanet Journal of Rare Diseases 2017 12:188
Published on: 22 December 2017

KBG syndrome
Dayna Morel Swols, Joseph Foster II and Mustafa Tekin
Orphanet Journal of Rare Diseases 2017 12:183
Published on: 19 December 2017

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