glycine has been researched along with Hypophosphatasia in 2 studies
Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
| Excerpt | Relevance | Reference |
|---|---|---|
| "One point mutation which converts glycine-317 to aspartate of tissue-nonspecific alkaline phosphatase (TNSALP) was reported to be associated with lethal hypophosphatasia (Greenberg, C." | 3.70 | Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. ( Amizuka, N; Fukushi, M; Hoshi, K; Ikehara, Y; Kumagai, H; Misumi, Y; Oda, K; Omura, S; Ozawa, H, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (50.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Makita, S | 1 |
| Al-Shawafi, HA | 1 |
| Sultana, S | 1 |
| Sohda, M | 1 |
| Nomura, S | 1 |
| Oda, K | 2 |
| Fukushi, M | 1 |
| Amizuka, N | 1 |
| Hoshi, K | 1 |
| Ozawa, H | 1 |
| Kumagai, H | 1 |
| Omura, S | 1 |
| Misumi, Y | 1 |
| Ikehara, Y | 1 |
2 other studies available for glycine and Hypophosphatasia
| Article | Year |
|---|---|
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
Topics: Alkaline Phosphatase; Animals; Blotting, Western; Centrifugation, Density Gradient; Chlorocebus aeth | 2012 |
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.
Topics: Alkaline Phosphatase; Aspartic Acid; Biological Transport; Cell Compartmentation; Glycine; Humans; H | 1998 |