carnitine has been researched along with Glycogen Storage Disease Type II in 7 studies
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 |
|---|---|---|
| "Here, we report the derivation of Pompe disease-induced pluripotent stem cells (PomD-iPSCs) from two patients with different GAA mutations and their potential for pathogenesis modeling, drug testing and disease marker identification." | 1.37 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification. ( Chen, CH; Chen, HF; Chen, PH; Chiang, SC; Chien, CL; Chien, YH; Chuang, CY; Ho, HN; Huang, HP; Hwu, WL; Kuo, HC; Li, LT; Stone, L, 2011) |
| "A diagnosis of infantile Pompe's disease (glycogenosis type II) was made by muscle biopsy on a 6-month-old infant boy seen with hypotonia, weakness, and developmental regression." | 1.28 | Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. ( Verity, MA, 1991) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (71.43) | 18.7374 |
| 1990's | 1 (14.29) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (14.29) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Huang, HP | 1 |
| Chen, PH | 1 |
| Hwu, WL | 1 |
| Chuang, CY | 1 |
| Chien, YH | 1 |
| Stone, L | 1 |
| Chien, CL | 1 |
| Li, LT | 1 |
| Chiang, SC | 1 |
| Chen, HF | 1 |
| Ho, HN | 1 |
| Chen, CH | 1 |
| Kuo, HC | 1 |
| Schaub, J | 1 |
| Pongratz, D | 1 |
| Hübner, G | 2 |
| Grantzow, R | 1 |
| Bosch, EP | 1 |
| Munsat, TL | 1 |
| Verity, MA | 1 |
| Ruderman, MI | 1 |
| Zito, G | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 4 Study of Mechanisms of Low Protein Diet Supplemented With Ketoanalogs on Reducing Proteinuria and Maintaining Nutritional Status in Type 2 Diabetic Nephropathy[NCT01300273] | Phase 4 | 60 participants (Anticipated) | Interventional | 2011-02-28 | Active, not recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
4 reviews available for carnitine and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
[Metabolic myopathies in childhood. A review in summarized form].
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Cytochrome-c Oxidase Deficienc | 1984 |
[Morphology of metabolic myopathies].
Topics: Carnitine; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Dis | 1984 |
Metabolic myopathies.
Topics: alpha-Glucosidases; AMP Deaminase; Carnitine; Carnitine O-Palmitoyltransferase; Creatine Kinase; Fem | 1979 |
Metabolic myopathies.
Topics: alpha-Glucosidases; Carnitine; Carnitine O-Palmitoyltransferase; Glucan 1,4-alpha-Glucosidase; Glyco | 1986 |
3 other studies available for carnitine and Glycogen Storage Disease Type II
| Article | Year |
|---|---|
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Topics: Adenine; alpha-Glucosidases; Animals; Base Sequence; Biomarkers; Carnitine; Cell Differentiation; Dr | 2011 |
Mitochondrial cardiomyopathy with involvement of skeletal muscles.
Topics: Autopsy; Cardiomyopathies; Carnitine; Female; Glycogen Storage Disease Type II; Humans; Infant; Micr | 1983 |
Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.
Topics: Carnitine; Glycogen Storage Disease Type II; Humans; Infant; Lipid Metabolism; Male; Muscular Diseas | 1991 |