Publications by authors named "Ling Yu Shih"

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Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations.
Gabriella Pinho, Gabriela Ross, Kaila Krishnamoorthy, Christina Kresge, Ling Yu Shih

Case Rep Womens Health· April 2022

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya, Ling-Yu Shih

Brain· February 2014

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The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Dong Wang, Hong Yang, Kevin C De Braganca, Jiesheng Lu, Ling Yu Shih

Mol Genet Metab· November 2008

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A new case of Okamoto syndrome.
Robert Wallerstein, Ling-Yu Shih, Mei-Heung Fong, Sharon Zheng, Eric Poon

Clin Dysmorphol· April 2005

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Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Barry Wolf, Kevin P Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, Ling Yu Shih

Hum Mutat· April 2005

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Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
Cynthia F Bartels, Hulya Bükülmez, Pius Padayatti, David K Rhee, Conny van Ravenswaaij-Arts, Ling-Yu Shih

Am J Hum Genet· July 2004

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