Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld +9 more
wiley +1 more source
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley +1 more source
Air-drying pretreatment effect on soil enzymatic activity
Plant, Soil and Environment, 2017 Air-drying of soil samples is a common practice for all-purpose soil testing. However, it may cause the cessation of microbial activity changing the biochemical attributes.
Rodrigo Santos MOREIRA +3 more
doaj +1 more source
Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis [PDF]
, 2021 Lulu Xu +9 more
openalex +1 more source
Sulfation of Thyroid Hormone and Dopamine during Human Development: Ontogeny of Phenol Sulfotransferases and Arylsulfatase in Liver, Lung, and Brain1 [PDF]
, 2001 Kerry Richard +5 more
openalex +1 more source
SOIL ENZYMATIC ACTIVITIES IN AREAS WITH STAGES AND MANAGEMENT OF FOREST REGENERATION FROM CAATINGA
Revista Caatinga, 2018 The tropical dry areas have suffered the most severe anthropic pressures. This factor motivates studies aimed at characterizing and monitoring the soil quality to determine the management measures to apply and to suggest appropriate recovery procedures ...
ANDREZZA EMANUELLA OLIVEIRA SILVA +4 more
doaj +1 more source
A Triplex DMA Structure of the Polypyrimidine: Polypurine Stretch in the 5′ Flanking Region of the Sea Urchin Arylsulfatase Gene [PDF]
, 1996 Naoaki Sakamoto +3 more
openalex +1 more source
AgronomyThe low fertility of tropical Oxisols challenges sustainable agriculture. While biochar-based granular fertilizers (BBGFs) offer a solution, the influence of different organic binders is unclear. This study investigated how BBGFs formulated with bio-oil (
José Mendes dos Santos Júnior +4 more
doaj +1 more source
Characterization and Structural Insights of a Novel Arylsulfatase from Pseudoalteromonas atlantica T6c [PDF]
, 2023 Panpan Dong +8 more
openalex +1 more source