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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
Clinica Chimica Acta; International Journal of Clinical Chemistry

One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency

Clinica Chimica Acta; International Journal of Clinical ChemistryDecember 4, 2019
Xiyuan LiYanling Yang
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
8
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
Orphanet Journal of Rare Diseases

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial

Orphanet Journal of Rare DiseasesMay 12, 2019
Sven DittrichGerman Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additio
4
16
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
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
Circulation. Genomic and Precision Medicine

Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Circulation. Genomic and Precision MedicineAugust 29, 2019
Judith M A VerhagenIngrid M B H van de Laar
1
3
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
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
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
Journal of Perinatal Medicine

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus

Journal of Perinatal MedicineDecember 8, 2019
Judith AltmannAlexander Weichert
Fetal and Pediatric Pathology

Infantile Hypertrophic Cardiomyopathy and Bronchopneumonia as Causes of an Unexpected Death in an 11-Month-Old Child

Fetal and Pediatric PathologyAugust 27, 2019
Francesco LuparielloGiovanni Botta
Cardiology in the Young

Incidental finding of type A aortic dissection in a paediatric heart transplant recipient

Cardiology in the YoungAugust 28, 2019
Laura D'AddeseKenneth Zahka
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
3
Journal of Pediatric Endocrinology & Metabolism : JPEM

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Journal of Pediatric Endocrinology & Metabolism : JPEMSeptember 2, 2019
Takumi KadoyaTohru Yorifuji
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

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