<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Da Lozzo, Prisca</style></author><author><style face="normal" font="default" size="100%">Magnolato, Andrea</style></author><author><style face="normal" font="default" size="100%">Del Rizzo, Irene</style></author><author><style face="normal" font="default" size="100%">Sirchia, Fabio</style></author><author><style face="normal" font="default" size="100%">Bruno, Irene</style></author><author><style face="normal" font="default" size="100%">Barbi, Egidio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report.</style></title><secondary-title><style face="normal" font="default" size="100%">J Adolesc Health</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J Adolesc Health</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2019</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2019 Jan</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">64</style></volume><pages><style face="normal" font="default" size="100%">137-138</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme [1]. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea, vomiting, abdominal distress, and symptomatic hypoglycemia [1,2]. Chronic fructose ingestion eventually leads to poor feeding, growth retardation and gradual liver and/or renal failure [3,4]. Some patients may remain undiagnosed until adulthood because of a self-protective avoidance of sweet tasting food that prevents the development of acute toxicity from fructose containing food; however, these subjects may suffer intermittent symptoms throughout life, leading to potentially serious misdiagnosis [4]. We report the case of a patient with unrecognized hereditary fructose intolerance in which chronic gastrointestinal complaints, low body weight, and unexplained food avoidance were addressed as manifestations of an eating disorder during adolescence.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30327278?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Andrade, Stefanny</style></author><author><style face="normal" font="default" size="100%">Sirchia, Fabio</style></author><author><style face="normal" font="default" size="100%">Faleschini, Elena</style></author><author><style face="normal" font="default" size="100%">Barbi, Egidio</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">A Girl with Delayed Puberty and Bumpy Lips.</style></title><secondary-title><style face="normal" font="default" size="100%">J Pediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Pediatr.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Exons</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genes, Dominant</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lip</style></keyword><keyword><style  face="normal" font="default" size="100%">Multiple Endocrine Neoplasia Type 2b</style></keyword><keyword><style  face="normal" font="default" size="100%">Neoplasm Metastasis</style></keyword><keyword><style  face="normal" font="default" size="100%">Puberty, Delayed</style></keyword><keyword><style  face="normal" font="default" size="100%">Thyroid Neoplasms</style></keyword><keyword><style  face="normal" font="default" size="100%">Thyroidectomy</style></keyword><keyword><style  face="normal" font="default" size="100%">Tongue</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 12</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">203</style></volume><pages><style face="normal" font="default" size="100%">454-454.e1</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30025668?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Zhang, Rong</style></author><author><style face="normal" font="default" size="100%">Knapp, Michael</style></author><author><style face="normal" font="default" size="100%">Suzuki, Kentaro</style></author><author><style face="normal" font="default" size="100%">Kajioka, Daiki</style></author><author><style face="normal" font="default" size="100%">Schmidt, Johanna M</style></author><author><style face="normal" font="default" size="100%">Winkler, Jonas</style></author><author><style face="normal" font="default" size="100%">Yilmaz, Öznur</style></author><author><style face="normal" font="default" size="100%">Pleschka, Michael</style></author><author><style face="normal" font="default" size="100%">Cao, Jia</style></author><author><style face="normal" font="default" size="100%">Kockum, Christina Clementson</style></author><author><style face="normal" font="default" size="100%">Barker, Gillian</style></author><author><style face="normal" font="default" size="100%">Holmdahl, Gundela</style></author><author><style face="normal" font="default" size="100%">Beaman, Glenda</style></author><author><style face="normal" font="default" size="100%">Keene, David</style></author><author><style face="normal" font="default" size="100%">Woolf, Adrian S</style></author><author><style face="normal" font="default" size="100%">Cervellione, Raimondo M</style></author><author><style face="normal" font="default" size="100%">Cheng, Wei</style></author><author><style face="normal" font="default" size="100%">Wilkins, Simon</style></author><author><style face="normal" font="default" size="100%">Gearhart, John P</style></author><author><style face="normal" font="default" size="100%">Sirchia, Fabio</style></author><author><style face="normal" font="default" size="100%">Di Grazia, Massimo</style></author><author><style face="normal" font="default" size="100%">Ebert, Anne-Karolin</style></author><author><style face="normal" font="default" size="100%">Rösch, Wolfgang</style></author><author><style face="normal" font="default" size="100%">Ellinger, Jörg</style></author><author><style face="normal" font="default" size="100%">Jenetzky, Ekkehart</style></author><author><style face="normal" font="default" size="100%">Zwink, Nadine</style></author><author><style face="normal" font="default" size="100%">Feitz, Wout F</style></author><author><style face="normal" font="default" size="100%">Marcelis, Carlo</style></author><author><style face="normal" font="default" size="100%">Schumacher, Johannes</style></author><author><style face="normal" font="default" size="100%">Martinón-Torres, Federico</style></author><author><style face="normal" font="default" size="100%">Hibberd, Martin Lloyd</style></author><author><style face="normal" font="default" size="100%">Khor, Chiea Chuen</style></author><author><style face="normal" font="default" size="100%">Heilmann-Heimbach, Stefanie</style></author><author><style face="normal" font="default" size="100%">Barth, Sandra</style></author><author><style face="normal" font="default" size="100%">Boyadjiev, Simeon A</style></author><author><style face="normal" font="default" size="100%">Brusco, Alfredo</style></author><author><style face="normal" font="default" size="100%">Ludwig, Michael</style></author><author><style face="normal" font="default" size="100%">Newman, William</style></author><author><style face="normal" font="default" size="100%">Nordenskjöld, Agneta</style></author><author><style face="normal" font="default" size="100%">Yamada, Gen</style></author><author><style face="normal" font="default" size="100%">Odermatt, Benjamin</style></author><author><style face="normal" font="default" size="100%">Reutter, Heiko</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.</style></title><secondary-title><style face="normal" font="default" size="100%">Sci Rep</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Sci Rep</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Bladder Exstrophy</style></keyword><keyword><style  face="normal" font="default" size="100%">Embryo, Mammalian</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation, Developmental</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Larva</style></keyword><keyword><style  face="normal" font="default" size="100%">LIM-Homeodomain Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Mesoderm</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Organogenesis</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Pronephros</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Isoforms</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Urinary Tract</style></keyword><keyword><style  face="normal" font="default" size="100%">Zebrafish</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 02 08</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">7</style></volume><pages><style face="normal" font="default" size="100%">42170</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 × 10. Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28176844?dopt=Abstract</style></custom1></record></records></xml>