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The following new articles have just been published in Orphanet Journal of Rare Diseases

Research  

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Wedatilake Y, Niazi R, Fassone E, Powell C, Pearce S, Plagnol V, Saldanha J, Kleta R, Chong W, Footitt E, Mills P, Taanman J, Minczuk M, Clayton P, Rahman S

Orphanet Journal of Rare Diseases 2016, 11 :90 (2 July 2016)

Abstract | Full Text | PDF | PubMed

Research  

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

Lenders M, Hennermann J, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese A, Duning T, Stypmann J, Krämer J, Weidemann F, Brand S, Wanner C, Brand E

Orphanet Journal of Rare Diseases 2016, 11 :88 (29 June 2016)

Abstract | Full Text | PDF | PubMed

Review  

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

Gibson B, Briggs M

Orphanet Journal of Rare Diseases 2016, 11 :86 (28 June 2016)

Abstract | Full Text | PDF | PubMed

Research  

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore S

Orphanet Journal of Rare Diseases 2016, 11 :84 (24 June 2016)

Abstract | Full Text | PDF | PubMed

Research  

Does the route of immunoglobin replacement therapy impact quality of life and satisfaction in patients with primary immunodeficiency? Insights from the French cohort “Visages”

Bienvenu B, Cozon G, Hoarau C, Pasquet M, Cherin P, Clerson P, Hachulla E, Crave J, Delain J, Jaussaud R

Orphanet Journal of Rare Diseases 2016, 11 :83 (22 June 2016)

Abstract | Full Text | PDF | PubMed

Research  

Characteristics of patients contacting a center for undiagnosed and rare diseases

Mueller T, Jerrentrup A, Bauer M, Fritsch H, Schaefer J

Orphanet Journal of Rare Diseases 2016, 11 :81 (21 June 2016)

Abstract | Full Text | PDF | PubMed