transferrin has been researched along with Spasms, Infantile in 3 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 1 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Abbott, MA; Asteggiano, C; Bamshad, MJ; Barr, E; Bernstein, JA; Chelakkadan, S; Christodoulou, J; Chung, WK; Ciliberto, MA; Cousin, J; Dong, YY; Eklund, EA; Freeze, HH; Gardiner, F; Ghosh, S; Graf, WD; Grunewald, S; Hammond, K; Hauser, NS; Hoganson, GE; Houck, KM; Kohler, JN; Larson, AA; Liu, P; Madathil, S; McCormack, C; Meeks, NJL; Miller, R; Monaghan, KG; Morava, E; Ng, BG; Nickerson, DA; Palculict, TB; Papazoglu, GM; Pletcher, BA; Rhodes, L; Rosenfeld, JA; Rowe, LJ; Russo, RS; Scheffer, IE; Schenone, AB; Schnur, RE; Serrano Russi, AH; Shiryaev, SA; Si, Y; Thabet, F; Tuite, A; Villanueva, MM; Wang, RY; Webster, RI; Wilson, D; Wolfe, LA; Zalan, A | 1 |
| Bastaki, F; Hamici, S; Khalifa, M | 1 |
| Gylje, H; Stibler, H; Uller, A | 1 |
1 review(s) available for transferrin and Spasms, Infantile
| Article | Year |
|---|---|
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Topics: Child, Preschool; Congenital Disorders of Glycosylation; Exome; Female; Glycosylation; Heterozygote; Humans; Infant; Mental Retardation, X-Linked; Mutation, Missense; N-Acetylglucosaminyltransferases; Protein Processing, Post-Translational; Spasms, Infantile; Syndrome; Transferrin; X Chromosome Inactivation | 2017 |
2 other study(ies) available for transferrin and Spasms, Infantile
| Article | Year |
|---|---|
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Topics: Biomarkers; Child, Preschool; Congenital Disorders of Glycosylation; Diet, Ketogenic; Female; Glycosylation; Humans; Infant; Male; Mutation; N-Acetylglucosaminyltransferases; Spasms, Infantile; Transferrin | 2020 |
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.
Topics: Abnormalities, Multiple; Atrophy; Blotting, Western; Congenital Disorders of Glycosylation; Consanguinity; Developmental Disabilities; Female; Frontal Lobe; Glycoproteins; Humans; Infant; Limb Deformities, Congenital; Magnetic Resonance Imaging; Nails, Malformed; Nipples; Protein Isoforms; Spasms, Infantile; Syringomyelia; Transferrin | 1999 |