n-formylglycine has been researched along with Juvenile Sulfatidosis in 7 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 4 (57.14) | 24.3611 |
2020's | 3 (42.86) | 2.80 |
Authors | Studies |
---|---|
Adang, LA; Ahrens-Nicklas, RC; Radhakrishnan, K; Schlotawa, L | 1 |
Adang, LA; Ahrens-Nicklas, R; Friede, T; Gärtner, J; Preiskorn, J; Schiller, S; Schlotawa, L | 1 |
Adang, LA; Ahrens-Nicklas, RC; Costin, C; De Castro, M; Dierks, T; Gärtner, J; Groeschel, S; Harzer, K; Kehrer, C; Montgomery, EF; Radhakrishnan, K; Schlotawa, L; Schwartz, IVD; Silva, TO; Staretz-Chacham, O | 1 |
Babicz, M; Dierks, T; Jaszczuk, I; Koppenhöfer, D; Lejman, M; Ohlenbusch, A; Radhakrishnan, K; Schlotawa, L; Ługowska, A | 1 |
Chadah, T; Meshach Paul, D; Rajasekaran, R; Senthilkumar, B; Sethumadhavan, R | 1 |
Bernhard, O; Dierks, T; Mayer, FJ; Radhakrishnan, K; Schlotawa, L; Schmidt, B; Wachs, M | 1 |
Harasink, SM; Khurana, DS; Legido, A; Melvin, JJ; Miskin, C; Wenger, DA | 1 |
2 review(s) available for n-formylglycine and Juvenile Sulfatidosis
Article | Year |
---|---|
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Topics: Glycine; Humans; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Protein Processing, Post-Translational; Sphingolipidoses; Sulfatases | 2020 |
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Topics: Glycine; Humans; Leukodystrophy, Metachromatic; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Oxidoreductases Acting on Sulfur Group Donors; Protein Processing, Post-Translational; Sulfatases | 2020 |
5 other study(ies) available for n-formylglycine and Juvenile Sulfatidosis
Article | Year |
---|---|
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Topics: Adolescent; Child; Child, Preschool; Female; Genotype; Glycine; Humans; Infant; Internationality; Leukodystrophy, Metachromatic; Male; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Rare Diseases; Retrospective Studies; Sulfatases | 2020 |
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Topics: Cells, Cultured; Child, Preschool; Computer Simulation; Enzymes; Glycine; Humans; Ichthyosis; Male; Multiple Sulfatase Deficiency Disease; Mutation, Missense; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Poland; Protein Processing, Post-Translational; Sulfatases | 2017 |
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Topics: Amino Acid Substitution; Glycine; Humans; Models, Molecular; Molecular Dynamics Simulation; Multiple Sulfatase Deficiency Disease; Mutation, Missense; Oxidoreductases Acting on Sulfur Group Donors; Protein Structure, Secondary; Sulfatases | 2018 |
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Topics: Amino Acid Sequence; Disulfides; Endoplasmic Reticulum; Enzyme Stability; Glycine; Humans; Multiple Sulfatase Deficiency Disease; Mutant Proteins; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Peptides; Protein Disulfide-Isomerases; Protein Folding | 2018 |
A Patient With Atypical Multiple Sulfatase Deficiency.
Topics: Cerebroside-Sulfatase; Child, Preschool; Female; Glycine; Humans; Magnetic Resonance Imaging; Multiple Sulfatase Deficiency Disease; Mutation; White Matter | 2016 |