Results 11 to 20 of about 796 (126)
Nonfatal Isolated Cardiac Nonlysosomal Glycogenosis: A Rare Cause of Infantile Hypertrophic Cardiomyopathy [PDF]
CJC Pediatric &Congenital Heart Disease, Volume 3, Issue 4, Page 178-181, August 2024.Metabolic diseases are common causes of infantile hypertrophic cardiomyopathy. Glycogen storage diseases with predominant cardiac involvement can be characterized as either lysosomal or nonlysosomal. Isolated cardiac nonlysosomal glycogenosis has been described as the result of PRKAG2 or PHK gene mutations.
Catherine Deshaies +3 more
wiley +2 more sources
Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View [PDF]
MetabolitesLysosomal Storage Diseases (LSDs) include roughly 70 inherited metabolic disorders, most of which are expressed in an autosomal recessive pattern. These conditions arise from mutations in genes encoding lysosomal enzymes, leading to intracellular buildup
Gessica Di Carlo +12 more
doaj +2 more sources
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance [PDF]
Genetics in Medicine OpenPurpose: Glycosaminoglycans (GAGs) accumulate in patients with mucopolysaccharidoses (MPS), multiple sulfatase deficiency, and mucolipidoses; measurement of total GAGs and the specific excretion pattern by fractionation can aid in their diagnosis.
Kristina Cusmano-Ozog +4 more
doaj +2 more sources
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders [PDF]
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 +2 more sources
Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights [PDF]
Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova +3 more
wiley +2 more sources
ECHOCARDIOGRAPHIC MANIFESTATIONS OF THE MUCOPOLYSACCHARIDOSES AND MUCOLIPIDOSES [PDF]
Pediatric Research, 1977 Cardiac involvement in the mucopolysaccharidoses (MPS) and mucolipidoses (ML) was assessed by echocardiography (E) in 32 patients (pts). Standard echocardiograms were examined for asymmetric septal hypertrophy (ASH), mitral and aortic valve abnormalities, and left ventricular (LV) function. 25 pts had MPS and 7 pts had ML.
Christine Delima +3 more
openaire +2 more sources
The Turkish Journal of Gastroenterology, 2018 Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly.
Çiğdem Seher KASAPKARA +3 more
doaj +2 more sources
Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management
Prenatal Diagnosis, Volume 43, Issue 13, Page 1650-1661, December 2023., 2023 Abstract Macrocephaly means a large head and is defined as a head circumference (HC) above the 98th percentile or greater than +2SD above the mean for gestational age. Macrocephaly can be primary and due to increased brain tissue (megalocephaly), which in most cases is familial and benign or secondary. The latter may be due to various causes, including
Shiri Shinar +3 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 313-325, March 2023., 2023 Abstract Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N‐glycosylation can be detected by transferrin screening, however, MOGS‐CDG escapes this routine screening.
Merel A. Post +21 more
wiley +1 more source