Results 71 to 80 of about 6,804 (215)
United European Gastroenterology Journal, Volume 13, Issue 5, Page 773-797, June 2025.ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti +29 more
wiley +1 more source
JCRPE, 2020 Objective:SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short ...
Semra Gürsoy +7 more
doaj +1 more source
Positive Effects of Caffeine Therapy in a Girl with PDE2A‐Related Paroxysmal Dyskinesia
Movement Disorders Clinical Practice, Volume 12, Issue 7, Page 1014-1016, July 2025.
Katerina Bernardi +2 more
wiley +1 more source
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet +11 more
wiley +1 more source
Managing idiopathic short stature: role of somatropin (rDNA origin) for injection
Biologics: Targets & Therapy, 2010 J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH)
J Paul Frindik, Stephen F Kemp
doaj
Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis
Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley +1 more source
Ghrelin Plasma Levels in Patients with Idiopathic Short Stature
Hormone Research in Paediatrics, 2010 <i>Background:</i> Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short stature have been reported.
Iñíguez Vila, Germán +4 more
openaire +6 more sources
Longitudinal analysis of growth in children with idiopathic short stature
Annals of Human Biology, 1997 In this study the growth curves of 229 children (145 boys, 84 girls ) with idiopathic short stature (ISS) were analysed in three ways: (1) we compared the results of longitudinal modelling by means of Karlberg's ICP model with those of a cross-sectional analysis; (2) we studied to what extent an individual changes his/her height standard deviation ...
Tim J Cole +3 more
openaire +2 more sources
High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature [PDF]
, 2002 Gerdine A. Kamp
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Same Phenotype in Children with Growth Hormone Deficiency and Resistance
Case Reports in Pediatrics, 2018 By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these ...
Irene Ioimo +4 more
doaj +1 more source