phthalic acid has been researched along with Glycogen Storage Disease Type II in 1 studies
phthalic acid: RN given refers to parent cpd; structure in Merck Index, 9th ed, #7178
phthalic acid : A benzenedicarboxylic acid cosisting of two carboxy groups at ortho positions.
Glycogen Storage Disease Type II: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
| Excerpt | Relevance | Reference |
|---|---|---|
| "The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy." | 1.91 | Precocious puberty in patients with Pompe disease. ( Chen, MH; Chien, YH; Tsai, MM; Tung, YC, 2023) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Tsai, MM | 1 |
| Chen, MH | 1 |
| Chien, YH | 1 |
| Tung, YC | 1 |
1 other study available for phthalic acid and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
Precocious puberty in patients with Pompe disease.
Topics: Adult; Cross-Sectional Studies; Enzyme Replacement Therapy; Glycogen Storage Disease Type II; Humans | 2023 |