Results 71 to 80 of about 60,786 (163)

Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Mucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Mariana Ardila Marín, Carlos Arturo Caicedo Toro, Jeyson Steven Rojas Banguero, José María Satizabal Soto, Daniela Arturo Terranova   +4 more
doaj   +1 more source

Plants synthesize ergothioneine, showing a link to abiotic stress

Plant Biology, EarlyView.
Various plants possess ergothioneine biosynthetic genes and can synthesize this antioxidant, where increased EGT levels under abiotic stress conditions indicate protective functions. Abstract Ergothioneine (EGT) is a sulphur‐containing histidine derivative and a potent antioxidant that exhibits beneficial effects on human health.
C. Kock, N. Gutsche, S. Walter, S. Zachgo   +3 more
wiley   +1 more source

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Genetics and Molecular Biology, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Roberto Giugliani, Martha Luz Solano Villarreal, C. Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino   +11 more
doaj   +1 more source

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Orphanet Journal of Rare Diseases, 2020
Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase.
Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan   +5 more
doaj   +1 more source

Inflammation and mechanical force‐induced bone remodeling

Periodontology 2000, EarlyView.
Abstract Periodontitis arises from imbalanced host–microbe interactions, leading to dysbiosis and destructive inflammation. The host's innate and adaptive immune responses produce pro‐inflammatory mediators that stimulate destructive events, which cause loss of alveolar bone and connective tissue attachment.
Hyeran Helen Jeon, Xin Huang, Leticia Rojas Cortez, Puttipong Sripinun, Jung‐me Lee, Julie J. Hong, Dana T. Graves   +6 more
wiley   +1 more source

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency [PDF]

, 2013
Schlotawa L, Radhakrishnan K, Baumgartner M, et al. Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. European Journal Of Human Genetics.
Thomas Dierks, Schlotawa, Lars, Lars Schlotawa, Jutta Gärtner, Baumgartner, Matthias R; https://orcid.org/, Bernhard Schmidt, Gaertner, Jutta, Schmidt, Bernhard, Matthias Baumgartner, Radhakrishnan, Karthikeyan, Baumgartner, Matthias, Dierks, Thomas, Schmid, Regula, Gärtner, Jutta, Karthikeyan Radhakrishnan, Regula Schmid   +15 more
core   +1 more source

Best Practices in Physiologically Based Pharmacokinetic (PBPK) Modeling

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 7, July 2026.
ABSTRACT Physiologically based pharmacokinetic (PBPK) modeling is a mechanistic cornerstone of model‐informed drug development (MIDD), providing evidence for regulatory decisions. PBPK models integrate physiological and pharmacological data and have been applied across a plethora of contexts of use, including assessing drug–drug interactions (DDIs ...
Marylore Chenel, Andre Dallmann, Ibrahim Ince, Michaela Meyer, Jan‐Frederik Schlender, Donato Teutonico, Erik Sjögren   +6 more
wiley   +1 more source

Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency

, 2019
Schlotawa L, Wachs M, Bernhard O, et al. Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency. In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM. Vol 126.
Schlotawa, Lars, Bernhard, Olaf, Dierks, Thomas, Radhakrishnan, Karthikeyan, Wachs, Michaela, Schmidt, Bernhard, Mayer, Franz J.   +6 more
core   +1 more source

Effects of Common Food Additives Kappa‐, Iota‐ and Lambda‐Carrageenans on Intestinal Epithelial Cell Activation and Barrier Disruption

Clinical &Experimental Allergy, Volume 56, Issue 7, Page 769-783, July 2026.
Carrageenans, widely used food additives, disrupted intestinal epithelial integrity in a gut‐on‐a‐chip model. All types (κ‐, ɩ‐, λ‐) induced cytotoxicity, inflammation and tight junction (TJ) disruption, triggering TNF‐mediated immune responses. λ‐Carrageenan had the most severe effects, supporting the Epithelial Barrier Theory linking food additives ...
Na Sun, Yagiz Pat, Huseyn Babayev, Sena Ardicli, Ismail Ogulur, Xianting Bu, Manru Li, Shuqi Jia, Beate Rückert, Raja Dhir, Kari C. Nadeau, Mubeccel Akdis, Cezmi A. Akdis, Duygu Yazici   +13 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source