Frequency of glycogen storage disease
type II in the Netherlands: Implications for diagnosis and genetic counselling.
Treating lysosomal storage diseases
with pharmacological chaperones: from concept to clinics.
Genetic basis of glycogen storage disease
type 1a: Prevalent mutations at the glucose-6-phosphatase locus.
Successful pregnancy in a patient with type III glycogen storage disease
managed with cornstarch supplements.
Neutral lipid storage disease
(NLSD) is an autosomal recessive disorder in which there are lipid droplets in almost all tissues.
Glycogen storage disease
type II: Acid alpha-glucosidase (acid maltase) deficiency.
The increase in information about glycogen storage disease
1a and GSD 1b and in the rate of determination of mutation gave the idea of diagnosing GSD 1a and GSD 1b with mutation analysis together with clinical and biochemical abnormalities instead of enyzmatic measurement by liver biopsy which is an invasive method.
In conclusion, although CDS is a rare lipid storage disease
, it should be a consideration in every patient with congenital ichthyosis, especially those with extracutaneous signs, as a simple peripheral smear can establish the diagnosis.
Summary: TEHRAN (FNA)- Researchers have overcome a major challenge to treating brain diseases by engineering an experimental molecular therapy that crosses the blood-brain barrier to reverse neurological lysosomal storage disease
The early onset LAL Deficiency is also known as Wolman Disease and the late LAL Deficiency is known as Cholesteryl Ester Storage Disease
There were also two poster presentations: (1) "Artifacts and Organism Mimickers in Pathology" by Shelvin Minas Fowler and Victor Nanales (2) "Lipid Storage Disease
of the Liver" by Brigitte Visagie who gave a talk on the same subject as well.
LSD forum chairperson Dr Tawfeg Ben-Omran said: "HMC is delighted to host the first Middle East Lysosomal Storage Disease