Search details
1.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Mol Genet Metab
; 141(2): 108116, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38161139
2.
Biochemical signatures of disease severity in multiple sulfatase deficiency.
J Inherit Metab Dis
; 47(2): 374-386, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37870986
3.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
J Inherit Metab Dis
; 46(2): 335-347, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36433920
4.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
J Inherit Metab Dis
; 43(6): 1288-1297, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32621519
5.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
J Inherit Metab Dis
; 43(6): 1298-1309, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32749716
6.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Int J Mol Sci
; 21(10)2020 May 13.
Article
in English
| MEDLINE | ID: mdl-32414121
7.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Mol Genet Metab
; 123(3): 337-346, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29397290
8.
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.
Brain
; 140(4): 1128-1146, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28334843
9.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Mol Genet Metab
; 121(3): 252-258, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28566233
10.
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.
bioRxiv
; 2024 Mar 14.
Article
in English
| MEDLINE | ID: mdl-38559013
11.
An inducible expression system for the manipulation of autophagic flux in vivo.
Autophagy
; 19(5): 1582-1595, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36310368
12.
Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review.
Children (Basel)
; 10(3)2023 Mar 21.
Article
in English
| MEDLINE | ID: mdl-36980153
13.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
EMBO Mol Med
; 15(3): e14837, 2023 03 08.
Article
in English
| MEDLINE | ID: mdl-36789546
14.
Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency.
Front Cell Dev Biol
; 10: 843079, 2022.
Article
in English
| MEDLINE | ID: mdl-35721514
15.
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
EMBO Mol Med
; 13(5): e13376, 2021 05 07.
Article
in English
| MEDLINE | ID: mdl-33938619
16.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Biochim Biophys Acta
; 1793(4): 710-25, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19124046
17.
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.
JIMD Rep
; 55(1): 38-43, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32905087
18.
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.
Biol Open
; 9(5)2020 05 07.
Article
in English
| MEDLINE | ID: mdl-32295832
19.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Mol Genet Genomic Med
; 8(9): e1167, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32048457
20.
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
JIMD Rep
; 49(1): 48-52, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31497481