Results 1 -
10
of
962
for
5S -"3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE"
- 5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. People with this condition are genetically ...
- Pyridoxal phosphate-responsive seizures (sometimes called pyridoxamine 5'-phosphate oxidase deficiency or PNPO deficiency) is a condition in which repeated seizures (epilepsy) typically begin within the first two weeks of life. ...
- ... may release large amounts of a compound called 5-oxoproline in their urine (5-oxoprolinuria). This compound builds up when glutathione is ... symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and ...
- ... Oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency Genetic Testing Registry: Lowe ...
- ... the condition. 3beta-HSDH deficiency 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBAS1 Genetic Testing Registry: ...
- ... symptoms of the condition. Glycogen storage disease type 5 Glycogenosis 5 GSD type V GSD V McArdle disease McArdle ... patients. Neuromolecular Med. 2013 Sep;15(3):470-5. doi: 10.1007/s12017-013-8233-2. Epub ...
- ... deficiency. J Inherit Metab Dis. 2010 Oct;33(5):563-70. doi: 10.1007/s10545-010-9159- ... and etiologic aspects. Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80. ...
- ... neurotransmitter disorders. J Child Neurol. 2007 May;22(5):606-16. doi: 10.1177/0883073807302619. Citation on ...
- ... high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder is more ... starting the reaction that converts proline to pyrroline-5-carboxylate. Hyperprolinemia type II is caused by variants ...
- ... condition that results when a piece of chromosome 5 is missing. Infants with this condition often have ... end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The ...