The Molecular Basis of Sanfilippo Syndrome Type B
Zhao, Hong G., Li, Hong Hua, Bach, Gideon, Schmidtchen, Artur, Neufeld, Elizabeth F.
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.1996)
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.1996)
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Activated Microglia in Cortex of Mouse Models of Mucopolysaccharidoses I and IIIB
Ohmi, Kazuhiro, Greenberg, David S., Rajavel, Kavitha S., Ryazantsev, Sergey, Li, Hong Hua, Neufeld, Elizabeth F.
Published in Proceedings of the National Academy of Sciences - PNAS (18.02.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (18.02.2003)
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NAGLU Mutations Underlying Sanfilippo Syndrome Type B
Schmidtchen, Artur, Greenberg, David, Zhao, Hong G., Li, Hong Hua, Huang, Yan, Tieu, Phuong, Zhao, Hui-Zhi, Cheng, Samson, Zhao, Zhaoyang, Whitley, Chester B., Di Natale, Paola, Neufeld, Elizabeth F.
Published in American journal of human genetics (01.01.1998)
Published in American journal of human genetics (01.01.1998)
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Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
Menon, Kaushiki P., Tieu, Phuong T., Neufeld, Elizabeth F.
Published in Genomics (San Diego, Calif.) (01.11.1992)
Published in Genomics (San Diego, Calif.) (01.11.1992)
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Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel : multiple allelic mutations of the IDUA gene in a small geographic area
BACH, G, MOSKOWITZ, S. M, TIEU, P. T, MATYNIA, A, NEUFELD, E. F
Published in American journal of human genetics (01.08.1993)
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Published in American journal of human genetics (01.08.1993)
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Molecular Basis of Adult-Onset and Chronic GM2 Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the α -Subunit of β -hexosaminidase
Paw, Barry H., Kaback, Michael M., Neufeld, Elizabeth F.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1989)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1989)
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Overexpression of the Human Lysosomal Enzyme α-L-Iduronidase in Chinese Hamster Ovary Cells
Kakkis, E.D., Matynia, A., Jonas, A.J., Neufeld, E.F.
Published in Protein expression and purification (01.06.1994)
Published in Protein expression and purification (01.06.1994)
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Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase
Dlott, B, d'Azzo, A, Quon, D V, Neufeld, E F
Published in The Journal of biological chemistry (15.10.1990)
Published in The Journal of biological chemistry (15.10.1990)
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Synthesis of β -hexosaminidase in Cell-Free Translation and in Intact Fibroblasts: An Insoluble Precursor α Chain in a Rare Form of Tay--Sachs Disease
Proia, Richard L., Neufeld, Elizabeth F.
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.1982)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.1982)
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