Gaucher disease is characterized by the accumulation of glucocerebroside, leading to
enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited …

Tay-Sachs disease (a GM2 gangliosidosis) is an inherited neuronal storage disease that
can affect individuals across the age spectrum. Psychosis is reported in 30% to 50% of adult …

To determine the origin of benign cystic teratomas of the ovary, chromosome-banding
studies were done on normal tissues and teratomas from five patients. The normal tissues …

A theoretical discussion on the correlation between residual enzyme activities in inherited
enzyme deficiencies and the development of neurological disorders is presented, based on …

The adult form of Tay-Sachs disease, adult GM2 gangliosidosis, is an autosomal recessive
disorder that results from mutations in the α chain of β-hexosaminidase A. This disorder, like …

Purpose To evaluate the safety and efficacy of miglustat in patients with G M2
gangliosidosis. Methods A randomized, multicenter, open-label, 12-month study involving …

• Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and
posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop …

Six patients from three families developed adult GM2 gangliosidosis resulting from severe β‐
hexosaminidase A deficiency. The clinical picture varied between and within families and …

With the current knowledge of the multitude of microbes that inhabit the human body, it is
increasingly clear that they constitute an integral component of the host. The gut microbiota …

We studied three patients from two unrelated families with adult hexosaminidase A
deficiency. A 30‐year‐old, non‐Jewish proband in the first family had juvenile amyotrophic …