R. Hirano

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1 (2008)

Deguchi, K., Clewing, J.M., Elizondo, L.I., Hirano, R., Huang, C., Choi, K., ...

Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of...

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein (1999)

Kobayashi, K, Sinasac, DS, Iijima, M, Boright, AP, Begum, L, Lee, JR, ...

Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS...