Page last updated: 2024-08-23

transferrin and Bloch-Siemens Syndrome

transferrin has been researched along with Bloch-Siemens Syndrome in 1 studies

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Berant, M; Brill-Zamir, R; Fryns, JP; Gershoni-Baruch, R; Jaeken, J; Knopf, C; Lischinsky, S; Mandel, H; Rod, R; Van Schaftingen, E1

Other Studies

1 other study(ies) available for transferrin and Bloch-Siemens Syndrome

ArticleYear
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: alpha 1-Antitrypsin; beta-N-Acetylhexosaminidases; Child, Preschool; Chromosomes, Human, Pair 7; Congenital Disorders of Glycosylation; Diagnosis, Differential; Female; Humans; Incontinentia Pigmenti; Isoelectric Focusing; Mannose-6-Phosphate Isomerase; Mosaicism; Phosphotransferases (Phosphomutases); Protein Isoforms; Transferrin; Trisomy

2000