Identification of a Small Deletion in One Allele of Patients with Infantile Form of Glycogen Storage Disease Type II

By Shieh J.J.   Lin C.Y.  

Biochemical and Biophysical Research Communications, Vol. 219, Iss. 2, 1996-02 ,pp. : 322-326

Elsevier

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Correction of Glycogen Storage Disease Type II by Enzyme Replacement with a Recombinant Human Acid Maltase Produced by Over-Expression in a CHO-DHFR^neg Cell Line

By Martiniuk F.   Chen A.   Donnabella V.   Arvanitopoulos E.   Slonim A.E.   Raben N.   Plotz P.   Rom W.N.  

Biochemical and Biophysical Research Communications, Vol. 276, Iss. 3, 2000-10 ,pp. : 917-923

Elsevier

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Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid alpha-Glucosidase Locus of Patients of Differing Phenotype

By Huie M.L.   Tsujino S.   Brooks S.S.   Engel A.   Elias E.   Bonthron D.T.   Bessley C.   Shanske S.   DiMauro S.   Goto Y.I.   Hirschhorn R.  

Biochemical and Biophysical Research Communications, Vol. 244, Iss. 3, 1998-03 ,pp. : 921-927

Elsevier

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A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type III

By Okubo M.   Aoyama Y.   Murase T.  

Biochemical and Biophysical Research Communications, Vol. 224, Iss. 2, 1996-07 ,pp. : 493-499

Elsevier

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Molecular Analysis of Glycogen Storage Disease Type Ib: Identification of a Prevalent Mutation among Japanese Patients and Assignment of a Putative Glucose-6-Phosphate Translocase Gene to Chromosome 11

By Kure S.   Suzuki Y.   Matsubara Y.   Sakamoto O.   Shintaku H.   Isshiki G.   Hoshida C.   Izumi I.   Sakura N.   Narisawa K.  

Biochemical and Biophysical Research Communications, Vol. 248, Iss. 2, 1998-07 ,pp. : 426-431

Elsevier

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