Developmental, speech and walking delays with epilepsy and other associated anomalies
Causes
Mutation in the PURA gene, located on Chromosome 5 at 5q31.
Prevention
None
Prognosis
Medium (with treatment)
Frequency
very rare, with roughly 500 reported in medical literature worldwide
Deaths
-
PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech delay, neo-natal hypotonia, failure to thrive, excessive sleepiness, epilepsy, and other anomalies.[1]
PURAsyndrome, also known as PURA-related neurodevelopmental disorder, is a rare novel genetic disorder which is characterized by developmental and speech...
central nervous system syndrome termed the 5q31.3 microdeletion syndrome, and is the basis for a proposed PURASyndrome based on PURA mutations rather than...
J, Von Wald T, Hansen KA (June 2017). "Premature Thelarche and the PURASyndrome". Obstetrics and Gynecology. 129 (6): 1037–1039. doi:10.1097/AOG.0000000000002047...
In April 2016, the United Nations Special Rapporteur on health, Dainius Pūras, condemned this treatment as a form of female genital mutilation "in the...
"Monster of the Mangones". The case led to the creation of a film titled Pura sangre, by director Luis Ospina. The story tells about a man who needs fresh...
encoded product is highly similar to purine-rich element binding protein A (PURA). The latter is a DNA-binding protein which binds preferentially to the single...
Tennessee. The album expands the guitar-based pop of its predecessor Electr-O-Pura to encompass a variety of other music genres, including bossa nova, krautrock...
overstimulate the 5-HT2A receptors in the brain, causing acute serotonin syndrome. A 2015 study observed that a dose of 200 mg/kg psilocin induced symptoms...
Proline-rich coiled coil 1 PRR16: encoding protein Proline-rich protein 16 PURA: Purine-rich element-binding protein A PWWP2A: encoding protein PWWP domain...
antimalarial agent" "Work on endocrinology, and especially the adaptation syndrome" "Discovery that maternal rubella was responsible for congenital cataract...
Archived from the original on July 19, 2008. Retrieved 2010-07-15. Adam MA, Pura J, Goffredo P, Dinan MA, Hyslop T, Reed SD, et al. (January 2015). "Impact...
second collection of 65 preparations appeared in his book, Materia Medica Pura (1810). As Hahnemann believed that large doses of drugs that caused similar...
preferring to play young spinner Beau Casson ahead of Hogg in the state's Pura Cup side. However, with Casson's move to New South Wales in 2006–07, Hogg...
against England in Melbourne. In 2004/05 Nicholson claimed 47 wickets in the Pura Cup, including 7 in the final, as NSW won the title. In 2007 he played for...
Barceloux D. G. (2008). "41 (Isoxazole-containing mushrooms and pantherina syndrome)" (PDF). Medical toxicology of natural substances: foods, fungi, medicinal...
it drained in the sea. Kaspatyros may be same as Kaspa-pyrus or Kashyapa-pura (city of Kashyapa) in other texts. Kashyapa is mentioned in numerous Hindu...
Luz Maria; Peña-Rosas, Juan Pablo; Fernández-Gaxiola, Ana C.; Rayco-Solon, Pura (2015-12-14). "Effects and safety of periconceptional oral folate supplementation...
in Poland in 1998, an 18-year-old man developed Wolff–Parkinson–White syndrome, arrhythmia, and suffered myocardial infarction after ingesting P. semilanceata...
either simultaneously or alternatingly, as part of Alice in Wonderland syndrome, collectively known as dysmetropsia, along with related distortions pelopsia...
Guido Manuli — Un altro mondo è possibile Various Documentary film La ragion pura Silvano Agosti — 2002 Senso '45 Tinto Brass — Ripley's Game Liliana Cavani...
population has fallen into comas due to the mysterious illness called "Randolph Syndrome" during the outbreak of World War III. The illness is revealed to come...
P.R.E. breed prototype". Asociación Nacional de Criadores de Caballos de Pura Raza Española. Retrieved December 30, 2008.[permanent dead link] Arabian...
Najfeld V, Johnson EM (2001). "Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia"...