Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.

Autor: Wang Y; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China.; Office of Academic Research, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.; Laboratory of Developmental Biology, Department of Cell Biology and Genetics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., Xu Y; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing College of Humanities, Science and Technology, Chongqing, China., Zhang H; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China., Yin D; Department of Pathology, Beijing Friendship Hospital, Capital Medical University, Beijing, China., Pan Y; Laboratory of Developmental Biology, Department of Cell Biology and Genetics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., He X; School of Life Sciences and Technology, ShanghaiTech University, Shanghai, China.; Laboratory of Developmental Biology, Department of Cell Biology and Genetics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., Li S; Office of Academic Research, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China., Cheng Z; Laboratory of Developmental Biology, Department of Cell Biology and Genetics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China., Zhu G; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhao T; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China., Huang H; Office of Academic Research, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China., Zhu M; Department of Endocrine and Metabolic Diseases Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.; Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, China.; Office of Academic Research, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Feb 15; Vol. 14, pp. 1267967. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2023).

Pan-Cancer, Genome-Scale Metabolic Network Analysis of over 10,000 Patients Elucidates Relationship between Metabolism and Survival.

Autor: Bucksot, Jesse¹ (AUTHOR), Ritchie, Katherine¹ (AUTHOR), Biancalana, Matthew¹ (AUTHOR), Cole, John A.¹ (AUTHOR), Cook, Daniel¹ (AUTHOR) daniel@simbiosys.com

Publikováno v: Cancers. Jul2024, Vol. 16 Issue 13, p2302. 17p.

Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia.

Autor: Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, 560029, Karnataka, India. drknvraju08@gmail.com., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, 560029, Karnataka, India., Kinhal U; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, 560029, Karnataka, India.

Publikováno v: Indian journal of pediatrics [Indian J Pediatr] 2023 Aug; Vol. 90 (8), pp. 837. Date of Electronic Publication: 2023 Apr 21.

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II.

Autor: Hassan HA; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt. heba.amin@yahoo.com., Mazen I; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Elaidy A; Department of Clinical Genetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Kamel AK; Department of Human Cytogenetics, Human Genetics & Genome Research Institute, National Research Centre, Cairo, Egypt., Eissa NR; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics & Genome Research Institute, National Research Centre, 33 El-Bohouth street, Cairo, 12311, Egypt.

Publikováno v: Hormones (Athens, Greece) [Hormones (Athens)] 2024 Jun; Vol. 23 (2), pp. 305-312. Date of Electronic Publication: 2024 Mar 25.

Recognition of asymptomatic hypercholanemia of pregnancy: Different clinical features, fetal outcomes and bile acids metabolism from intrahepatic cholestasis of pregnancy.

Autor: He Y; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Zhang X; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Shao Y; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chongqing Medical University, China; Department of Clinical Laboratory, The First Affiliated Hospital of Chongqing Medical University, China., Xu B; Department of Clinical Laboratory, The First Affiliated Hospital of Chongqing Medical University, China., Cui Y; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Chen X; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Chen H; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Luo C; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China., Ding M; Key Laboratory of Laboratory Medical Diagnosis, Ministry of Education, School of Laboratory Medicine, Chongqing Medical University, China. Electronic address: dingmin@cqmu.edu.cn.

Publikováno v: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2022 Jan 01; Vol. 1868 (1), pp. 166269. Date of Electronic Publication: 2021 Sep 17.