glycine has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome in 21 studies
Excerpt | Relevance | Reference |
---|---|---|
" We have examined guanidinoacetate and creatine levels in urine from 11 HPRT deficient patients (9 with Lesch-Nyhan syndrome and 2 with partial deficiency)." | 3.74 | Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency. ( Merinero, B; Puig, JG; Torres, RJ; Verdú, A, 2008) |
"The Lesch-Nyhan syndrome is an X-linked disorder caused by a virtually complete absence of the key enzyme of purine recycling, hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 3.70 | Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium. ( Bain, D; Castro, MG; Fairbanks, LD; Larregina, AT; Löwenstein, PR; Morelli, AE; Simmonds, HA; Southgate, TD, 1999) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 16 (76.19) | 18.7374 |
1990's | 3 (14.29) | 18.2507 |
2000's | 1 (4.76) | 29.6817 |
2010's | 1 (4.76) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Nguyen, KV | 1 |
Naviaux, RK | 1 |
Nyhan, WL | 2 |
Verdú, A | 1 |
Torres, RJ | 1 |
Merinero, B | 1 |
Puig, JG | 2 |
Emmerson, BT | 3 |
Wyngaarden, JB | 1 |
Rassin, DK | 1 |
Lloyd, KG | 1 |
Kelley, WN | 1 |
Fox, I | 1 |
Bouwens-Rombouts, AG | 1 |
van den Boogaard, MJ | 1 |
Mateos, FA | 1 |
Hennekam, RC | 1 |
Tilanus, MG | 1 |
Gathof, BS | 1 |
Rocchigiani, M | 1 |
Micheli, V | 1 |
Gaigl, Z | 1 |
Gresser, U | 1 |
Southgate, TD | 1 |
Bain, D | 1 |
Fairbanks, LD | 1 |
Morelli, AE | 1 |
Larregina, AT | 1 |
Simmonds, HA | 1 |
Castro, MG | 1 |
Löwenstein, PR | 1 |
Mertz, DP | 1 |
Taylor, MW | 1 |
Tokito, MK | 1 |
Gupta, KC | 1 |
Pipkorn, J | 1 |
Reem, GH | 1 |
Gordon, RB | 2 |
Johnson, LA | 2 |
Sweetman, L | 1 |
Borden, M | 1 |
Kulovich, S | 1 |
Kaufman, I | 1 |
Krízek, V | 1 |
Omenn, GS | 1 |
Giliberti, P | 1 |
Pignero, A | 1 |
Tancredi, F | 1 |
Samson, D | 1 |
Halliday, D | 1 |
Nicholson, DC | 1 |
Chanarin, I | 1 |
Boyle, JA | 1 |
Raivio, KO | 1 |
Becker, MA | 1 |
Seegmiller, JE | 1 |
Demus, A | 1 |
Kaiser, W | 1 |
Schaub, J | 1 |
Matwiyoff, NA | 1 |
Ott, DG | 1 |
Leiber, B | 1 |
Olbrich, G | 1 |
4 reviews available for glycine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Article | Year |
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[Theory of pathogenesis in primary hyperuricamia].
Topics: Adenosine Monophosphate; Adult; Child; Female; Glucosephosphates; Glycine; Gout; Humans; Kidney; Les | 1975 |
Purine biosynthesis in mutant mammalian cells.
Topics: Adenosine; Amidophosphoribosyltransferase; Amino Sugars; Animals; Cells, Cultured; Cricetinae; Dimet | 1977 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter | 1976 |
1 trial available for glycine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Article | Year |
---|---|
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Topics: Adolescent; Adult; Arthritis; Clinical Trials as Topic; Creatinine; Female; Genetic Linkage; Glycine | 1976 |
16 other studies available for glycine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Article | Year |
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Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Topics: Adult; Alanine; Amino Acid Substitution; Child, Preschool; Exons; Female; Glycine; Heterozygote; Hum | 2017 |
Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
Topics: Creatine; Creatinine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome | 2008 |
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine Phosphoribosyltransferase; Adolescent; Adult; Creatinine; Erythrocytes; Female; Glycine; Het | 1969 |
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Amino Acids; Brain Chemistry; Child; Child, Preschool; Glutamine; Glycine; Humans | 1982 |
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
Topics: Amino Acid Sequence; Arginine; Base Sequence; DNA Mutational Analysis; Exons; Female; Glycine; Human | 1993 |
HPRT-mutations in Italian Lesch-Nyhan patients.
Topics: Base Sequence; Exons; Female; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; Italy; Lesch- | 1998 |
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium.
Topics: Adenine; Adenoviridae; Animals; Carbon Radioisotopes; Cell Survival; Cells, Cultured; Culture Media; | 1999 |
Regulation of de novo purine biosynthesis in normal and 8-azaguanine-resistant Chinese hamster cells.
Topics: Azaguanine; Cell Line; Feedback; Glutamine; Glycine; Humans; Hypoxanthine Phosphoribosyltransferase; | 1978 |
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Topics: Autoradiography; Brain; Erythrocytes; Female; Glycine; Heterozygote; Humans; Hypoxanthine Phosphorib | 1977 |
Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease.
Topics: 5-Hydroxytryptophan; Adolescent; Carbidopa; Child; Child, Preschool; Glycine; Humans; Hydroxyindolea | 1977 |
[Folic acid metabolism in Lesch-Nythan syndrome].
Topics: Folic Acid; Glycine; Histidine; Humans; Lesch-Nyhan Syndrome; Methionine; Serine | 1977 |
Quantitation of ineffective erythropoiesis from the incorporation of [15N] delta-aminolaevulinic acid and [15N] glycin into early labelled bilirubin. II. Anaemic patients.
Topics: Adolescent; Aged; Aminolevulinic Acid; Anemia; Anemia, Aplastic; Anemia, Hypochromic; Anemia, Sidero | 1976 |
Effects of nicotinic acid on human fibroblast purine biosynthesis.
Topics: Adenine; Azaserine; Carbon Isotopes; Chromatography, Thin Layer; Diphosphates; Fibroblasts; Formates | 1972 |
The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.
Topics: Adenine; Carbon Isotopes; Glycine; Humans; Hypoxanthines; Infant; Lesch-Nyhan Syndrome; Male; Pentos | 1973 |
Stable isotope tracers in the life sciences and medicine.
Topics: Candida; Carbon Isotopes; Diabetes Mellitus; Eukaryota; Glucose; Glycine; Humans; Isotope Labeling; | 1973 |
[Lesch-Nyhan syndrome].
Topics: Aggression; Athetosis; Bites, Human; Chorea; Glycine; Humans; Hyperlipidemias; Intellectual Disabili | 1973 |