Results 91 to 100 of about 14,004 (249)

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Frontiers in Endocrinology, 2018
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system.
Gilda Belli, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi   +6 more
doaj   +1 more source

Kinetika i aktivnost leukocitne arilsulfataze A u osoba s dijagnozom cerebralne paralize [PDF]

, 2006
Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy.
BLAZENKA FORETIC, IVANA FURAC, SVJETLANA KALANJ BOGNAR, ZDRAVKO GRUBESIC, ZELJKA VUKELIC   +4 more
core   +1 more source

UHPLC‐QTOFMS Urine Drug Screening With Dilute‐and‐Shoot Sample Preparation and Vacuum‐Insulated Probe‐Heated Electrospray Ionization

Drug Testing and Analysis, Volume 17, Issue 8, Page 1208-1218, August 2025.
The new ionization technique, vacuum‐insulated probe‐heated electrospray, allows for a simple dilute‐and‐shoot sample preparation to be used with liquid chromatography time‐of‐flight mass spectrometry in urine drug screening. Comparison with a method relying on solid‐phase extraction and conventional electrospray ionization shows improved performance ...
Mira Sundström, Pirkko Kriikku, Ilkka Ojanperä, Carsten Baessmann, Anna Pelander   +4 more
wiley   +1 more source

Actividades Enzimáticas en Consorcios Bacterianos de Suelos Bajo Cultivo de Papa con Manejo Convencional y Bajo Pastizal Enzyme Activities in Bacterial Consortium Isolated from Soils with Potato Crop under Conventional Management and under Grassland

Revista Facultad Nacional de Agronomía Medellín, 2012
Resumen. Se evaluaron las actividades enzimáticas (ureasa, proteasa, fosfatasa ácida y alcalina, fosfodiesterasa, b-glucosidasa y arilsulfatasa) en consorcios bacterianos (Bacillus subtilis, Brevundimonas diminuta, Flavimonas oryzihabitants) de suelos ...
Lizeth Manuela Avellaneda-Torres, Luz Marina Melgarejo Muñoz, Carlos Eduardo Narváez Cuenca, Jimena Sánchez Nieves   +3 more
doaj  

Ecological intensification through conservation agriculture in Cambodia: impact on SOC, N and enzymatic activities. [P56] [PDF]

, 2015
Cambodia has been identified to be one of the most affected countries by climate change. In the past two decades, migration from the central plains to the peripheral areas changed drastically the development of the uplands, inducing tremendous ...
Boulakia, Stéphane, Briedis, Clever, De Moraes Sa, Joao Carlos, Hok, Lyda, Kong, Rada, Leng, Vira, Tivet, Florent   +6 more
core  

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Neurodegeneration in metachromatic leukodystrophy (MLD) may be preceded by systemic complications. Characterization of these features is critical to define barriers to early diagnosis and treatment eligibility for gene therapy. We utilized medical billing (claims) datasets and a natural history study to capture pre‐diagnosis MLD‐related events.
Ali Mohajer, Anjana Sevagamoorthy, Karen Bean, Sylvia Mutua, Francis Pang, Laura Ann Adang   +5 more
wiley   +1 more source

Ocular Manifestation in a Rare Case of Mucopolysaccharidosis VI

Journal of Mazandaran University of Medical Sciences, 2021
Mucopolysaccharidosis VI is an inherited autosomal recessive disease that causes glycosaminoglycan deposition in different tissues due to arylsulfatase deficiency that can cause various systemic and ocular manifestations.
Leila Rezaei, Naser Aghaei
doaj  

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals

Brazilian Journal of Medical and Biological Research, 1999
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals
C.G. Pedron, P.A. Gaspar, R. Giugliani, M.L.S. Pereira   +3 more
doaj   +1 more source

Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.

Journal of Biological Chemistry, 1990
A 2.2-kilobase cDNA clone for human arylsulfatase B (ASB) and several genomic clones were isolated and sequenced. The deduced amino acid sequence of 533 amino acids contains a 41-amino acid N-terminal signal peptide and a mature polypeptide of 492 amino acid residues.
C, Peters, B, Schmidt, W, Rommerskirch, K, Rupp, M, Zühlsdorf, M, Vingron, H E, Meyer, R, Pohlmann, K, von Figura   +8 more
openaire   +2 more sources

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

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, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source