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Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1

✍ Scribed by Park, Hyung-Doo; Lee, Dong Hwan; Choi, Tae-Youn; Lee, You Kyoung; Kim, Jong-Won; Ki, Chang-Seok; Lee, Yong-Wha

Book ID
120225082
Publisher
Walter de Gruyter GmbH & Co. KG
Year
2009
Tongue
English
Weight
139 KB
Volume
47
Category
Article
ISSN
1434-6621

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Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati