Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives [0.03%]
遗传性蔗糖-isomaltase功能丧失：机制、影响及未来展望
Ninna Karsbæk Senftleber,Stina Ramne,Ida Moltke et al.
Ninna Karsbæk Senftleber et al.
Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are v...
Divyani Garg,Shekeeb Mohammad,Anju Shukla et al.
Divyani Garg et al.
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur episodically, are transient, usually have normal interictal periods, and are characterized by hyperkinetic disorders, including ataxia, chorea, dystonia, and balli...
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office's Report [0.03%]
捐赠人安全问题：理论与实践的差异——波兰审计总局报告分析
Rafał Patryn,Anna Zagaja,Mariola Drozd
Rafał Patryn
The introduction and development of genetic testing has caused the emergence of numerous dilemmas, which pertain to the performed tests, their results, and the influence they have on an individual person. To minimize potential doubts, it is...
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations [0.03%]
巴西罕见病研究中心注册的雷尔氏综合症患者队列：一种新颖的LZTR1家族性变异和反复出现的突变
Natana Chaves Rabelo,Maria Eduarda Gomes,Isabelle de Oliveira Moraes et al.
Natana Chaves Rabelo et al.
Purpose: Noonan syndrome and related disorders are genetic conditions affecting 1:1000-2000 individuals. Variants causing hyperactivation of the RAS/MAPK pathway lead to phenotypic overlap between syndromes, in addition t...
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia [0.03%]
三代人持续关爱血友病家庭中的女性/j女孩门诊的建立与实践
Ampaiwan Chuansumrit,Werasak Sasanakul,Nongnuch Sirachainan et al.
Ampaiwan Chuansumrit et al.
Objective: The study aimed to report a 3-decade successive establishment of care for women/girls from families with haemophilia. Methods: ...
Hanna Moczulska,Michal Pietrusinski,Marcin Serafin et al.
Hanna Moczulska et al.
Objective: Trisomy 13 is one of the most common chromosome aberrations diagnosed in the prenatal period, and is associated with some specific dysmorphic features. Rare chromosome 13 aberrations other than trisomy 13 may c...
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes [0.03%]
ADGRL3（LPHN3）的新突变及其两个假基因的拷贝数变异联合导致自闭症谱系障碍的病例报告
Martin H Maurer,Anja Kohler,Melanie Hudemann et al.
Martin H Maurer et al.
We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood inst...
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy [0.03%]
ABCD1基因突变：肾上腺脊髓神经病的机制和管理
Alyssa M Volmrich,Lauren M Cuénant,Irman Forghani et al.
Alyssa M Volmrich et al.
Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower l...
Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer [0.03%]
长链非编码RNA ASB16-AS1和AFAP1-AS1：结直肠癌中的诊断、预后价值及生存分析
Naglaa S Elabd,Shimaa E Soliman,Moamena S Elhamouly et al.
Naglaa S Elabd et al.
Background: We aimed to evaluate the diagnostic roles of AFAP1-AS1 and ASB16-AS1 in colorectal cancer and highlight their roles in predicting colorectal cancer patients' prognosis. ...
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study [0.03%]
测量胎儿透明隔腔宽度对提高22q11.2缺失综合征诊断的 usefulness：病例对照研究
Christy L Pylypjuk,Shiza F Memon,Bernard N Chodirker
Christy L Pylypjuk
Objective: To evaluate the utility of measuring fetal cavum septum pellucidum (CSP) width during routine, mid-pregnancy ultrasound for improving diagnosis of 22q11.2 deletion syndrome amongst fetuses with and without cono...