Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
L Peña‐Quintana, G Scherer… - Clinical …, 2017 - Wiley Online Library
Background Tyrosinemia type II, also known as Richner‐Hanhart Syndrome, is an extremely
rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic …
rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic …
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
Z Beyzaei, S Nabavizadeh, S Karimzadeh… - Orphanet Journal of …, 2022 - Springer
Background Different types of non-hepatorenal tyrosinemia are among the rare forms of
tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by …
tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by …
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart syndrome
Y Bouyacoub, H Zribi, H Azzouz, F Nasrallah… - Gene, 2013 - Elsevier
Tyrosinemia type II, also designated as oculocutaneous tyrosinemia or Richner–Hanhart
syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report …
syndrome (RHS), is a very rare autosomal recessive disorder. In the present study, we report …
[PDF][PDF] Richner-Hanhart syndrome (tyrosinemia type II)
F Locatelli, E Puzenat, JB Arnoux, D Blanc, F Aubin - Cutis, 2017 - cdn.mdedge.com
VOL. 100 NO. 6 I DECEMBER 2017 E21 WWW. CUTIS. COM gene have been reported. 4-7
These mutations lead to a reduction or an absence in the activity of hepatic tyrosine …
These mutations lead to a reduction or an absence in the activity of hepatic tyrosine …
一例酪氨酸血症患儿的临床特征及相关致病基因分析.
李景仪， 吴元明， 杨颖， 孙茂… - Progress in Modern …, 2016 - search.ebscohost.com
摘要目的: 对一例酪氨酸血症患儿进行临床表现和基因突变的分析. 方法: 采用血氨基酸液相色谱-
串联质谱法和尿液有机酸气相色谱-质谱分析患儿血尿代谢情况, 采用PCR …
串联质谱法和尿液有机酸气相色谱-质谱分析患儿血尿代谢情况, 采用PCR …
[引用][C] Molecular genetic analysis of FAM58A and expansion of the mutation spectrum in STAR syndrome
A Craig - 2015 - freidok.uni-freiburg.de