Results 41 to 50 of about 23,853 (147)
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
Developmental Medicine &Child Neurology, Volume 68, Issue 1, Page 82-90, January 2026.To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn +9 more
wiley +1 more source
Osteochondrosis in horses: An overview of genetic and other factors
Equine Veterinary Journal, Volume 58, Issue 1, Page 6-19, January 2026.Abstract Osteochondrosis (OC) is a frequent manifestation of developmental orthopaedic disease, and its severe clinical presentation is known as OC dissecans (OCD). OC is defined as a disruption of the endochondral ossification process in the epiphyseal cartilage, and this disease has been reported in different mammalian species, including humans, dogs,
Lola Martinez‐Saez +2 more
wiley +1 more source
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]
, 2017 Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam +11 more
core +2 more sources
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources
Mucopolysaccharidosis VI in cats - clarification regarding genetic testing [PDF]
, 2016 Debate. Published online: 02 July 2016.The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes ...
Beccaglia, M. +5 more
core +3 more sources
Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]
, 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.
Acosta, Angelina +11 more
core +5 more sources
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta +3 more
wiley +1 more source
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]
, 2019 IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut +30 more
core
Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials
Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley +1 more source