Results 11 to 20 of about 565 (80)

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. [PDF]

BMC Pediatr, 2023
Sheth J, Shah S, Datar C, Bhatt K, Raval P, Nair A, Jain D, Shah J, Sheth F, Sheth H.   +9 more
europepmc   +1 more source

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study. [PDF]

Mol Genet Metab Rep
Donti TR, DiPerna JC, Hegde MR, Revvity Omics, Inc.   +4 more
europepmc   +1 more source

Sulfation pathways in the maintenance of functional beta-cell mass and implications for diabetes. [PDF]

Essays Biochem
Mueller JW, Thomas P, Dalgaard LT, da Silva Xavier G.   +3 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

Sulfatide Binds to Influenza B Virus and Enhances Viral Replication. [PDF]

Viruses
Kurebayashi Y, Wakabayashi Y, Takahashi T, Sakakibara K, Takahashi S, Minami A, Suzuki T, Takeuchi H.   +7 more
europepmc   +1 more source

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. [PDF]

J Child Neurol
Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA.   +12 more
europepmc   +1 more source

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency. [PDF]

Front Cell Dev Biol, 2022
Fleming A, Xuan LZ, Sanchez-Elexpuru G, Williams SV, Windell D, Gelb MH, Herbst ZM, Schlotawa L, Rubinsztein DC.   +8 more
europepmc   +1 more source

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series. [PDF]

Commun Med (Lond)
Pillai NR, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L, Eisengart JB, Bronken G, Gupta A, Lund TC, Whitley CB, Elsea SH, Orchard PJ.   +12 more
europepmc   +1 more source

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance. [PDF]

Hum Genet
Joshi D, Pradhan S, Sajeed R, Srinivasan R, Rana S.   +4 more
europepmc   +1 more source