Results 11 to 20 of about 6,281 (181)

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation. [PDF]

Laryngoscope
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Villarreal EG, Chiang J, Propst EJ, Wolter NE.   +3 more
europepmc   +2 more sources

Unveiling the Hidden Drivers: How Vegetation Cover, Season and Forest Management Shape the Soil Microbial Community in Two Mediterranean Forest Ecosystems. [PDF]

Environ Microbiol Rep
Forest management affects microbial community composition depending on forest type. Vegetation type has the strongest effect on microbial composition, while management alters community structure without affecting function, highlighting the importance of vegetation in forest soil ecosystem dynamics.
Picariello E, De Nicola F.
europepmc   +2 more sources

Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B [PDF]

Proceedings of the National Academy of Sciences, 1979
Genetics of human lysosomal arylsulfatases A and B (aryl-sulfate sulfohydrolase, EC 3.1.6.1), associated with childhood disease, has been studied with human-rodent somatic cell hybrids. Deficiency of arylsulfatase A (ARS A ) in humans results in a progressive neurodegenerative disease, metachromatic leukodystrophy ...
C, DeLuca, J A, Brown, T B, Shows
openaire   +2 more sources

Optimisation of culture conditions for a producer clone coexpressing arylsulfatase B and a formylglycine-generating enzyme in order to increase the yield of arylsulfatase B

Биопрепараты: Профилактика, диагностика, лечение, 2022
Maroteaux—Lamy syndrome (mucopolysaccharidosis type VI) is an orphan genetic disease caused by mutations in the arylsulfatase B gene (ARSB), which encodes the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova, K. A. Smolova, I. A. Kirik, M. S. Pantyushenko, R. L. Anisimov, R. A. Khamitov, A. A. Piskunov, V. N. Bade   +7 more
doaj   +1 more source

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis

Molecular Genetics & Genomic Medicine, 2020
Background Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA).
Jesús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz   +4 more
doaj   +1 more source

Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential

Brain Sciences, 2020
Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is a clinically heterogeneous disorder, with obscure etiology and no disease-modifying therapy to date.
Efthalia Angelopoulou, Yam Nath Paudel, Chiara Villa, Christina Piperi   +3 more
doaj   +1 more source

A closer look at ARSA activity in a patient with metachromatic leukodystrophy

Molecular Genetics and Metabolism Reports, 2019
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty, S. Barron Frazier, Matthew Clark, Anna Childers, Sumit Pruthi, David A. Wenger, Jessica Duis   +6 more
doaj   +1 more source

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, 2023
Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf   +13 more
doaj   +1 more source

Microbiological properties of soils are sensitive to changes provided by organic cultivation of banana ‘BRS Princesa’ in the semi-arid region

Acta Scientiarum: Biological Sciences, 2023
Soil microbiota has a key role in the dynamics of natural and agro-ecosystems and is sensitive to changes in these environments. This study evaluated changes in the microbiological properties of soils under an organic production system of banana ‘BRS ...
Luana Silva Cerqueira, Aldo Vilar Trindade, Luciano Ricardo Braga Pinheiro, Carla da Silva Sousa   +3 more
doaj   +1 more source

Long-Term Consequences of Increased Activity of Urine Enzymes After Cardiac Surgery – A Prospective Observational Study

Therapeutics and Clinical Risk Management, 2022
Jowita Biernawska,1 Katarzyna Kotfis,2 Jolanta Szymańska-Pasternak,3 Anna Bogacka,4 Joanna Bober3 1Department of Anesthesiology and Intensive Therapy, Pomeranian Medical University, Szczecin, Poland; 2Department of Anesthesiology, Intensive ...
Biernawska J, Kotfis K, Szymańska-Pasternak J, Bogacka A, Bober J   +4 more
doaj