PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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PRKAG2 mutations presenting in infancy.

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P1476

PRKAG2 mutations presenting in infancy.

@en

P2093

Anne F Buckley

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Chanika Phornphutkul

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Deeksha Bali

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Gregory H Tatum

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Kathleen M Rotondo

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Priya S Kishnani

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Rachel D Torok

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Stephanie B Wechsler

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Stephanie L Austin

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P2860

Early (< 8 days) postnatal corticosteroids for preventing chronic lung disease in preterm infants

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Hypertrophic cardiomyopathy in childhood

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3

Noonan syndrome

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.

P2888

s10545-017-0072-0

P304

823-830

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P31

scholarly article

P356

10.1007/S10545-017-0072-0

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2017-08-11T00:00:00Z

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P698

28801758

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