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Paediatric Cardiomyopathies

Paediatric Cardiomyopathies diagram by Kalumet, Wikimedia
Kalumet, Wikimedia

Paediatric cardiomyopathy and heart failure are distinct but frequently associated conditions, which have a high mortality. Here is the latest research.

Top 20 most recent papers
Genetics in Medicine : Official Journal of the American College of Medical Genetics

Clinical utility of exome sequencing in infantile heart failure

Genetics in Medicine : Official Journal of the American College of Medical GeneticsSeptember 19, 2019
Alyssa RitterRebecca C Ahrens-Nicklas
50
4
8
Genetics in Medicine : Official Journal of the American College of Medical Genetics

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

Genetics in Medicine : Official Journal of the American College of Medical GeneticsFebruary 11, 2020
Miriam S ReuterRebekah K Jobling
24
3
Molecular Genetics and Metabolism

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening

Molecular Genetics and MetabolismDecember 23, 2019
Kate C VerbeetenMichael T Geraghty
Annals of Translational Medicine

Long-term outcome and unmet needs in infantile-onset Pompe disease

Annals of Translational MedicineAugust 9, 2019
Andreas Hahn, Anne Schänzer
NPJ Genomic Medicine

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

NPJ Genomic MedicineAugust 10, 2019
Mullin Ho-Chung YuBrian Hon-Yin Chung
2
6
Biochimica Et Biophysica Acta. Molecular Basis of Disease

Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment

Biochimica Et Biophysica Acta. Molecular Basis of DiseaseJanuary 10, 2020
Cinzia BragatoMarina Mora
2
Annals of Translational Medicine

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

Annals of Translational MedicineAugust 9, 2019
Antonio ToscanoOlimpia Musumeci
Current Treatment Options in Cardiovascular Medicine

Updates on the Genetic Paradigm in Heart Failure

Current Treatment Options in Cardiovascular MedicineJune 30, 2019
Andrew N Rosenbaum, Naveen Pereira
1
Frontiers in Immunology

A Computational Pipeline for the Diagnosis of CVID Patients

Frontiers in ImmunologySeptember 24, 2019
Annelies EmmaneelYvan Saeys
47
11
Annals of Translational Medicine

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

Annals of Translational MedicineAugust 9, 2019
Jousef Alandy-DyVirginia Kimonis
European Journal of Pediatrics

Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature

European Journal of PediatricsDecember 17, 2019
Nina D PaauwJohannes M P J Breur
10
Clinica Chimica Acta; International Journal of Clinical Chemistry

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

Clinica Chimica Acta; International Journal of Clinical ChemistryFebruary 7, 2020
Ching-Wan LamChun-Yiu Law
The Application of Clinical Genetics

Barth syndrome: mechanisms and management

The Application of Clinical GeneticsJune 27, 2019
Josef Finsterer
Pediatric Transplantation

Cardiac transplantation in children with Noonan syndrome

Pediatric TransplantationJuly 2, 2019
Leslie M McCallenKathryn C Chatfield
1
11

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