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Betty Y.L. Hsu

University of Pennsylvania

24

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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

2002 Molecular Genetics and Metabolism
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Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase

2001 The Journal of Clinical Endocrinology and Metabolism
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Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

2001 Molecular Genetics and Metabolism
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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

1998 The New England Journal of Medicine
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Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

1997 The New England Journal of Medicine
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Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

1994 Metabolism-clinical and Experimental
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Characteristics of L-proline and sodium transport in renal brush border membranes isolated from 7-day-old and adult rats

1989 Bioscience Reports
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Assessment of binding of L-cystine and L-lysine by rat renal brush-border membranes.

1986 Biochimica et Biophysica Acta
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Developmental aspects of proline transport in rat renal brush border membranes

1986 Proceedings of the National Academy of Sciences of the United States of America
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Absence of a role of gamma-glutamyl transpeptidase in the transport of amino acids by rat renal brushborder membrane vesicles.

1984 The Journal of Membrane Biology
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