Hessel P. Nijenhuis
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View article: Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i> -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic <i>ALPK3</i> -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum Open
View article: Unexpected high troponin T and I values in a child with hypertrophic cardiomyopathy and acute chest pain: a case report
Unexpected high troponin T and I values in a child with hypertrophic cardiomyopathy and acute chest pain: a case report Open
Background Elevated troponin T (cTnT) and/or troponin I (cTnI) can be ascribed to multiple causes, mostly resulting from cardiac tissue damage and in lesser numbers resulting from non-cardiac related causes. The presence of macrotroponins …
View article: Decreased Muscle Strength in Children With Repaired Tetralogy of Fallot: Relation With Exercise Capacity
Decreased Muscle Strength in Children With Repaired Tetralogy of Fallot: Relation With Exercise Capacity Open
Background The aim of this study is to describe muscle strength in pediatric patients with repaired tetralogy of Fallot compared with healthy peers and to analyze the correlation between muscle strength and peak oxygen uptake, exercise cap…
View article: Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy Open
We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 de…