Bifunctional Reagents for Formylglycine Conjugation: Pitfalls and Breakthroughs
In: ChemBioChem, Jg. 21 H. 24, S. 3580-35932020A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
In: Molecular genetics & genomic medicine, Jg. 8 H. 92020A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease
In: Disease Models & Mechanisms, Jg. 9 H. 9, S. 1015-10282016Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
In: Cell Reports, Jg. 24 H. 1, S. 27-37.e42018Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
In: JIMD reports, Jg. 49 H. 1, S. 48-522019