Journal of Rare Disorders: Diagnosis & Therapy

Research Article: J Rare Disord Diagn Ther (20)

Biochemical Characterisation and Whole Genome Expression Profiling of Cultured Skin Fibroblasts from Two South African Adults with Urinary 3-Hydroxyisovaleric Acid and 3-Methylcrotonylglycine

Author(s): Zandberg L, Erasmus E, Suormala T, Mienie LJ, Mels CMC and Van Dijk AA

DOI: 10.21767/2380-7245.100049

Abstract | Full-Text | PDF

Case Report: J Rare Disord Diagn Ther (21)

Paraneoplastic Pancytopenia Revealing Non-small Cell Lung Carcinoma

Author(s): Moubachir H, El Khettabi W , Arfaoui H , Qachouh A , Diop Lacombe S , Jabri H and Afif MH

DOI: 10.21767/2380-7245.100050

Abstract | Full-Text | PDF