๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Late-treated phenylketonuria mimicking Angelman syndrome

โœ Scribed by Dan, Bernard ;Christiaens, Florence ;Mewasingh, Leena D. ;De Laet, Corinne ;Goyens, Philippe


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
46 KB
Volume
104
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Angelman syndrome: Mimicking conditions
โœ Williams, Charles A. ;Lossie, Amy ;Driscoll, Daniel ;, ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 173 KB

The diagnosis of Angelman syndrome (AS) can be conยฎrmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis and alternative diagnosis may be investigated. In evaluating individuals for AS

Prader-Willi and Angelman syndromes: Dia
โœ Kosaki, Kenjiro; McGinniss, Matthew J.; Veraksa, Alexey N.; McGinnis, William J. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 36 KB ๐Ÿ‘ 2 views

The putative promoter region of the SNRPN gene contains a CpG island which is heavily methylated in the maternally derived allele and unmethylated in the paternally derived allele. In patients with Prader-Willi syndrome (PWS) only the methylated allele is present, while in those with Angelman syndro