Pages that link to "Q40141054"
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The following pages link to Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency (Q40141054):
Displaying 17 items.
- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? (Q28821352) (← links)
- Multi-system disorders of glycosphingolipid and ganglioside metabolism (Q33902037) (← links)
- Multiple sulfatase deficiency with neonatal manifestation (Q34986221) (← links)
- Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency (Q35222463) (← links)
- Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. (Q37102138) (← links)
- Neonatal manifestation of multiple sulfatase deficiency (Q37344682) (← links)
- Proprotein convertases process and thereby inactivate formylglycine-generating enzyme. (Q39216555) (← links)
- Paralog of the formylglycine-generating enzyme--retention in the endoplasmic reticulum by canonical and noncanonical signals (Q40014323) (← links)
- Multiple sulfatase deficiency: A case series of four children (Q42147193) (← links)
- SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency (Q42701927) (← links)
- Structure and expression of sulfatase and sulfatase modifying factor genes in the diamondback moth, Plutella xylostella (Q48345151) (← links)
- Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient (Q48479430) (← links)
- Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. (Q49351804) (← links)
- Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease (Q50346083) (← links)
- Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey (Q50616500) (← links)
- A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency (Q89671561) (← links)
- A systematic cross-sectional survey of multiple sulfatase deficiency (Q97068663) (← links)