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Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
Springer Science and Business Media LLC - Tập 7 - Trang 1-6 - 2020
Nami Mohammadian Khonsari, Sahar Mohammad Poor Nami, Benyamin Hakak-Zargar, Tessa Voth
Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead... hiện toàn bộ
Milk glucosidase activity enables suckled pup starch digestion
Springer Science and Business Media LLC - Tập 3 - Trang 1-6 - 2016
B. L. Nichols, M. Diaz-Sotomayor, S. E. Avery, S. K. Chacko, D. L. Hadsell, S. S. Baker, B. R. Hamaker, L. K. Yan, H. M. Lin, R. Quezada-Calvillo
Starch requires six enzymes for digestion to free glucose: two amylases (salivary and pancreatic) and four mucosal maltase activities; sucrase-isomaltase and maltase-glucoamylase. All are deficient in suckling rodents. The objective of this study is to test 13C-starch digestion before weaning by measuring enrichment of blood 13C-glucose in maltase-glucoamylase-null and wild-type mice. Maltase-gluc... hiện toàn bộ
The accumulation of multifunctional T cells in hypertrophied adenoids is dependent on age and related to clinical manifestation
Springer Science and Business Media LLC - Tập 1 - Trang 1-1 - 2014
J Knolle, K Hebel, C Arens, C Hahne, G Jorch, M Brunner-Weinzierl
A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy
Springer Science and Business Media LLC - Tập 2 - Trang 1-2 - 2015
Sebahattin Cirak, Haicui Wang, Raul Heredia, Francesco Muntoni, Yetrib Hathout, Peter Herkenrath, Jörg Dötsch, Peter Nürnberg
Complementary foods in baby food pouches: position statement from the Nutrition Commission of the German Society for Pediatrics and Adolescent Medicine (DGKJ, e.V.)
Springer Science and Business Media LLC - Tập 6 Số 1 - 2019
Berthold Koletzko, Christoph Bührer, Regina Ensenauer, Frank Jochum, Hermann Kalhoff, Burkhard Lawrenz, Antje Körner, Walter Mihatsch, Silvia Rudloff, Klaus‐Peter Zimmer
Renal consequences of preterm birth
Springer Science and Business Media LLC - Tập 4 - Trang 1-9 - 2017
Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch, Abhay Lodha
The developmental origin of health and disease concept identifies the brain, cardiovascular, liver, and kidney systems as targets of fetal adverse programming with adult consequences. As the limits of viability in premature infants have been pushed to lower gestational ages, the long-term impact of prematurity on kidneys still remains a significant burden during hospital stay and beyond. The purpo... hiện toàn bộ
Pursuing novel molecular mechanisms and treatment strategies to enhance lung growth in neonatal chronic lung disease (CLD)
Springer Science and Business Media LLC - - 2015
Miguel A Alejandre Alcazar, Mark Kaschwich, Stefanie Preuss, Robert Ertsey, Sana Mujahid, Eva Rother, Katharina Dinger, Jörg Dötsch, Marlene Rabinovitch, Richard Bland
Vitamin A-retinoid signaling in pulmonary development and disease
Springer Science and Business Media LLC - Tập 3 Số 1 - 2016
Héctor Márquez, Wellington V. Cardoso
Leukocyte recruitment in preterm and term infants
Springer Science and Business Media LLC - Tập 3 - Trang 1-5 - 2016
Katinka Karenberg, Hannes Hudalla, David Frommhold
Impaired cellular innate immune defense accounts for susceptibility to sepsis and its high morbidity and mortality in preterm infants. Leukocyte recruitment is an integral part of the cellular immune response and follows a well-defined cascade of events from rolling of leukocytes along the endothelium to firm adhesion and finally transmigration which is concerted by a variety of adhesion molecules... hiện toàn bộ
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
Springer Science and Business Media LLC - Tập 8 - Trang 1-6 - 2021
Stefan Kohl, Sandra Habbig, Lutz T. Weber, Max C. Liebau
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically heterogeneous conditions, ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT share the pathophysiology of an impaired developmental interaction of the ureteric bud... hiện toàn bộ
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