Results 21 to 30 of about 23,762 (307)
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus.
A Juneja, A Sultan, S Bhatnagar
doaj +1 more source
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience [PDF]
Purpose We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods We reviewed the medical records of 50 patients who
Su Jin Kim +4 more
doaj +1 more source
Hemp (Cannabis sativa) has gained global attention since being legalized in the USA in 2018. The legalization of hemp is also underway in Korea; however, it requires facility cultivation and an agricultural technological system that can produce high ...
Seungyong Hahm +4 more
doaj +1 more source
Diagnosis and Treatment of Growth Hormone Deficiency: A Position Statement from Korean Endocrine Society and Korean Society of Pediatric Endocrinology [PDF]
Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life ...
Jung Hee Kim +30 more
doaj +1 more source
Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in cartilage oligomeric matrix protein (COMP).
Jacqueline T. Hecht +7 more
doaj +1 more source
LEG LENGTHENING IN TURNER DWARFISM
We have reviewed 16 patients treated by leg lengthening for various forms of Turner dwarfism with regard to the long period of healing and the complications.
F. Brigadoi +2 more
core +2 more sources
Current insight into the molecular genetic basis of dwarfism in livestock [PDF]
Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with ...
dCSCA RMSC-1 +18 more
core +2 more sources
Introduction Achondroplasia (ACP) is a common skeletal dysplasia. Vozoritide is the first drug that has an effect on the pathogenesis of impaired enchondral growth in achondroplasia.
Dmitry A. Popkov +2 more
doaj +1 more source
Midgetism: The Exploitation and Discrimination of People with Dwarfism.
There exist problematic attitudes and beliefs about dwarfism that have rarely been challenged, but continue to construct people with dwarfism as an inferior group within society.
Pritchard, Erin
core
A brother and sister with this disorder, who showed pathognomonic features like short body, short extremities, spinal deformity, hand deformities were diagnosed as having PEV previosly. One of them was treated with CSTR due to bilateral PEV.
Mahmut Berkman +4 more
doaj

