✦ LIBER ✦

Rapid genetic testing facilitating the diagnosis of short QT syndrome

✍ Scribed by Calum J. Redpath; Martin S. Green; David H. Birnie; Michael H. Gollob

Book ID: 117579892
Publisher: Pulsus Group Inc
Year: 2009
Tongue: English
Weight: 844 KB
Volume: 25
Category: Article
ISSN: 0828-282X
DOI: 10.1016/s0828-282x(09)70077-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The genetic basis of long QT and short Q

The genetic basis of long QT and short QT syndromes: A mutation update

✍ Paula L. Hedley; Poul Jørgensen; Sarah Schlamowitz; Romilda Wangari; Johanna Moo 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 544 KB

Prevalence and Spectrum of Large Deletio

Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

✍ David J. Tester; Amber J. Benton; Laura Train; Barbara Deal; Linnea M. Baudhuin; 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 523 KB

The Role of the Epinephrine Test in the

The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

✍ Sally-Ann B. Clur; Priya Chockalingam; Luc H. Filippini; Ari P. Widyanti; Marc V 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 253 KB

An assay for the rapid detection of the

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

✍ Volkmar Gieselmann 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 576 KB

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). A substantial ASA deficiency has also been described in clinically healthy persons, a condition for which the term pseudodeficiency was introduced. The discrimination of both kinds o

1130-207 Prevalence and spectrum of muta

1130-207 Prevalence and spectrum of mutations in the cardiac ryanodine receptor in patients referred for long QT syndrome genetic testing

✍ Laura J Kopplin; David J Tester; Michael J Ackerman 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 80 KB

Spectrum and prevalence of mutations fro

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

✍ Kapplinger, Jamie D.; Tester, David J.; Salisbury, Benjamin A.; Carr, Janet L.; 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 809 KB