𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Sibling phenotype concordance in classical infantile Pompe disease

✍ Scribed by Wendy E. Smith; Jennifer A. Sullivan-Saarela; Jennifer S. Li; Gerald F. Cox; Deyanira Corzo; Yuan-Tsong Chen; Priya S. Kishnani


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
121 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


The genotype–phenotype correlation in Po
✍ Marian Kroos; Marianne Hoogeveen-Westerveld; Ans van der Ploeg; Arnold J.J. Reus πŸ“‚ Article πŸ“… 2012 πŸ› John Wiley and Sons 🌐 English βš– 282 KB πŸ‘ 2 views
Recurrent Severe Infantile Cortical Hype
✍ Beth M. Drinkwater; Jude P. Crino; Jose Garcia; James Ogburn; Jacqueline T. Hech πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 61 KB πŸ‘ 1 views

Infantile cortical hyperostosis (ICH), Caffey disease, is a multifocal, inflammatory skeletal process with classic onset before the fifth month of life and resolution by the age of 3 years. A severe phenotype with early prenatal onset has also been described. Inheritance is generally accepted as aut

Clinical and neuroradiological findings
✍ Barone, R.; BrΓΌhl, K.; Stoeter, P.; Fiumara, A.; Pavone, L.; Beck, M. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 64 KB πŸ‘ 1 views

In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide P-galactoside deficiency. T w o presented as the classic infantile form and died within the second year of l

Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog