scholarly journals Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.

1985 ◽  
Vol 260 (14) ◽  
pp. 8336-8341
Author(s):  
A J Reuser ◽  
M Kroos ◽  
R P Oude Elferink ◽  
J M Tager
Keyword(s):  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii ◽  
Alpha Glucosidase

Glycogenosis Type II (Pompe)

2010 ◽  
pp. 308-309
Author(s):  
Margit Pavelka ◽  
Jürgen Roth
Keyword(s):  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Biochemical Genetics of Glycogenosis Type II in Brahman Cattle

1993 ◽  
Vol 190 (3) ◽  
pp. 941-947 ◽  
Author(s):  
H.A. Wisselaar ◽  
M.M.P. Hermans ◽  
W.J. Visser ◽  
M.A. Kroos ◽  
B.A. Oostra ◽  
...  
Keyword(s):  
Type Ii ◽  
Biochemical Genetics ◽  
Brahman Cattle ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Muscular Form of Glycogenosis Type II (Pompe's Disease)

PEDIATRICS ◽  
1979 ◽  
Vol 63 (1) ◽  
pp. 124-129
Author(s):  
Kazuhiko Tanaka ◽  
Shinichiro Shimazu ◽  
Noriaki Oya ◽  
Munehiko Tomisawa ◽  
Tomoichi Kusunoki ◽  
...  
Keyword(s):  
Heart Tissue ◽  
Recessive Trait ◽  
Type Ii ◽  
Vacuolar Degeneration ◽  
Progressive Muscular Dystrophy ◽  
Normal Ranges ◽  
Abnormal Accumulation ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii ◽  
Histochemical Examination

An 11-year-old boy who was previously thought to have progressive muscular dystrophy was studied biochemically, and histologically. He was seen initially with an amyotonic syndrome with no clinical evidence of heart disease. Light and histochemical examination showed vacuolar degeneration and abnormal accumulation of glycogen in the muscular fibers. Electron microscopy showed aggregates of glycogen granules surrounded by a well-defined membrane, as in previously reported cases of type II glycogenosis. Enzyniatic study disclosed that acid α-glucosidase was deficient in muscle, liver, and heart tissue, although neutral cs-glucosidase was present within normal ranges. Measurement of acid and neutral α-gtucosidase activity in muscle from the patient and his sisters and in urine from them and their parents indicated that his sisters are heteroz gotes and his parents probably are heterozygotes. The disease was transmitted as an autosomal-recessive trait.

Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele

1991 ◽  
Vol 10 (9) ◽  
pp. 681-687 ◽  
Author(s):  
F. MARTINIUK ◽  
M. MEHLER ◽  
M. BODKIN ◽  
S. TZALL ◽  
K. HIRSCHHORN ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Type Ii ◽  
Adult Onset ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

2003 ◽  
Vol 26 (7) ◽  
pp. 675-681 ◽  
Author(s):  
B. Bembi ◽  
G. Ciana ◽  
C. Martini ◽  
A. Benettoni ◽  
A. Gombacci ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Identification of a point mutation in the human lysosomal α-glucosidase gene causing infantile glycogenosis type II

1991 ◽  
Vol 179 (2) ◽  
pp. 919-926 ◽  
Author(s):  
M.M.P. Hermans ◽  
E. de Graaff ◽  
M.A. Kroos ◽  
H.A. Wisselaar ◽  
B.A. Oostra ◽  
...  
Keyword(s):  
Point Mutation ◽  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

Glycogenosis type II: The infantile- and late-onset acid maltase deficiency observed in one family

1978 ◽  
Vol 87 (3) ◽  
pp. 451-453 ◽  
Author(s):  
J.F. Koster ◽  
H.F.M. Busch ◽  
R.G. Slee ◽  
T.W. Van Weerden
Keyword(s):  
Late Onset ◽  
Type Ii ◽  
Acid Maltase Deficiency ◽  
Acid Maltase ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii
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