Hirschsprung disease [0.03%]
希氏病
Louise Montalva,Lily S Cheng,Raj Kapur et al.
Louise Montalva et al.
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients prese...
Gregory Ciottone,Flavio Salio
Gregory Ciottone
Hepatitis A virus infection [0.03%]
甲型肝炎病毒感染
Pierre Van Damme,Rosa M Pintó,Zongdi Feng et al.
Pierre Van Damme et al.
Hepatitis A is a vaccine-preventable infection caused by the hepatitis A virus (HAV). Over 150 million new infections of hepatitis A occur annually. HAV causes an acute inflammatory reaction in the liver that usually resolves spontaneously ...
Male infertility [0.03%]
男性不育症
Michael L Eisenberg,Sandro C Esteves,Dolores J Lamb et al.
Michael L Eisenberg et al.
Clinical infertility is the inability of a couple to conceive after 12 months of trying. Male factors are estimated to contribute to 30-50% of cases of infertility. Infertility or reduced fertility can result from testicular dysfunction, en...
Linda-Gail Bekker,Chris Beyrer,Nyaradzo Mgodi et al.
Linda-Gail Bekker et al.
Published Erratum
Nature reviews. Disease primers. 2023 Sep 11;9(1):48. DOI:10.1038/s41572-023-00464-z 2023
Glycogen storage diseases [0.03%]
糖原累积病
William B Hannah,Terry G J Derks,Mitchell L Drumm et al.
William B Hannah et al.
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to...