Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid deh...
The Tohoku journal of experimental medicine 258(3) 183-193 2022年10月
Thrombotic microangiopathy (TMA) is a disease that causes organ damage due to microvascular hemolytic anemia, thrombocytopenia, and microvascular platelet thrombosis. Streptococcus pneumoniae-associated TMA (spTMA) is a rare complication of invasi...
American journal of medical genetics. Part A 188(7) 2246-2250 2022年3月
Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellec...
Nakajima Y   Meijer J   Dobritzsch D   Roelofsen J   Meinsma R   Zhang C   Wang X   Zheng H   Zhao J   Ito T   Saito S   van Kuilenburg AB   
SSIEM (society for the study of inborn errors of metabolism) 2012 Annual Symposium 2012年
Nakajima Y   Ichiki S   Hussein MH   Ito T   Sato Y   Kondo S   Suzuki T   Hashimoto T   Togari H   
The 1st Asian Congress for Inherited Metabolic Diseases 2010年