Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases

Two mutations affecting the transport an

Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II

✍ Monique M. P. Hermans; Marian A. Kroos; Esther De Graaff; Ben A. Oostra; Arnold 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 503 KB

The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut