Thiamine-responsive megaloblastic anemia syndrome

Results 111 to 120 of about 458 (127)

Some of the next articles are maybe not open access.

Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the first case in Lithuania

2014
Rogers syndrome – thiamine responsive megaloblastic anemia (TRMA) syndrome is a very rare autosomal recessive hereditary disorder. Only ~80 cases have been described to date mainly in consanguineous families. Three main features are characteristic to the disease – megaloblastic anemia, early onset deafness and non-type I diabetes.
Mikštienė, Violeta +7 more
openaire +1 more source

Rogers syndrome (thiamine responsive megaloblastic anemia syndrome): the success of multidisciplinary approach

2014
Thiamine responsive megaloblastic anemia syndrome is a rare autosomal recessive metabolic disorder. Only ~80 cases have been described mainly in consanguineous families. A gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified.
Mikštienė, Violeta +7 more
openaire +1 more source

[Bibliometric visualization analysis of thiamine-responsive megaloblastic anemia syndrome].

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
Visual analysis of the current status, research hotspots, evolving trends, and future prospects in the field of thiamine-responsive megaloblastic anemia syndrome (TRMA), providing new insights and directions for subsequent research on the pathogenic mechanisms and prevention strategies of TRMA.
L L, Gao, F Q, Lin
openaire +1 more source

Thiamine-Responsive Megaloblastic Anemia Syndrome

2003
Kimihiko Oishi, George Diaz, Bruce Gelb
openaire +1 more source

TRMA syndrome (thiamine-responsive megaloblastic anemia): A case report with early diagnosis

2007
[No abstract available]
Onal, H. +4 more
openaire +1 more source

Leber Congenital Amaurosis as an Initial Manifestation in a Chinese Patient With Thiamine-Responsive Megaloblastic Anemia Syndrome

American Journal of Medical Genetics, Part A, 2022
Ruifang Sui, Zhisheng Yuan, Shijing Wu
exaly

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report