|1.||Tylki-Szymańska, Anna: 2 articles (02/2014 - 05/2012)|
|2.||Jurecka, Agnieszka: 2 articles (02/2014 - 05/2012)|
|3.||Sun, Qin: 1 article (01/2016)|
|4.||Poretti, Andrea: 1 article (06/2014)|
|5.||Doherty, Dan: 1 article (06/2014)|
|6.||Boltshauser, Eugen: 1 article (06/2014)|
|7.||Zikanova, Marie: 1 article (02/2014)|
|8.||Jurkiewicz, Elżbieta: 1 article (02/2014)|
|9.||García, F: 1 article (01/2014)|
|10.||Castro, M: 1 article (01/2014)|
09/01/2012 - "Isolated neonatal seizures: adenylosuccinase deficiency is another cause!"
02/01/2008 - "[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]."
05/01/2012 - "In conclusion, a ketogenic diet could be considered a valid therapeutic option in patients with intractable seizures in a course of adenylosuccinate lyase deficiency; however, it requires a formal study."
05/01/2012 - "Epilepsy in adenylosuccinate lyase deficiency may be difficult to treat, and there is no standardized therapy. "
02/01/1998 - "We report a male infant with adenylosuccinase deficiency who developed epileptic seizures on the second day of life. "
08/01/1997 - "Adenylosuccinase deficiency presenting with epilepsy in early infancy."
09/01/2000 - "Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly."
02/01/1998 - "Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death."
|3.||Dihydropyrimidine Dehydrogenase Deficiency
04/01/2000 - "The expected abnormalities were easily found in samples from patients with purine nucleoside phosphorylase deficiency, ornithine transcarbamylase deficiency, molybdenum cofactor deficiency, adenylosuccinase deficiency, or dihydropyrimidine dehydrogenase deficiency. "
10/01/2000 - "These include phenylketonuria, histidinemia, adenylosuccinate lyase deficiency, dihydropyrimidine dehydrogenase deficiency, 5'-nucleotidase superactivity, and phosphoribosylpyrophosphate synthetase deficiency. "
01/01/2014 - "In the last thirteen years, we have studied urine/plasma specimens from about 1600 patients and we have identified 35 patients: eight patients with adenylosuccinate lyase deficiency, eight patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, one patient with purine nucleoside phosphorylase deficiency, ten patients with xanthine dehydrogenase deficiency, six patients with molybdenum cofactor deficiency and two patients with dihydropyrimidine dehydrogenase deficiency. "
10/20/1995 - "As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency."
|4.||Mental Retardation (Idiocy)
06/01/2001 - "Adenylosuccinate lyase deficiency, which is associated with severe mental retardation and autistic features, was discovered in 1984. "
01/01/2009 - "On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome."
01/01/2009 - "Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the excretion of the succinylaminoimidazolecarboxamide riboside (SAICAr). "
01/01/2016 - "Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe intellectual disability, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency). "
06/01/2014 - "Primary conditions include chromosomal aberrations (e.g., trisomy 13 and 18), metabolic disorders (e.g., molybdenum cofactor deficiency, Smith-Lemli-Opitz syndrome, and adenylosuccinase deficiency), genetic syndromes (e.g., Ritscher-Schinzel, Joubert, and CHARGE syndromes), and brain malformations (primary posterior fossa malformations e.g., Dandy-Walker malformation, pontine tegmental cap dysplasia and rhombencephalosynapsis, or global brain malformations such as tubulinopathies and α-dystroglycanopathies). "
02/01/2005 - "This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. "
|1.||Molybdenum cofactor deficiency
|6.||5'-Nucleotidase (5' Nucleotidase)
|9.||Pyrrolidonecarboxylic Acid (Pyroglutamic Acid)