(Q38039376)

27 August 2017

title

Genetics and metabolic cardiomyopathies (English)

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27 August 2017

E C Wicks

1

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27 August 2017

P M Elliott

series ordinal

2

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27 August 2017

publication date

1 September 2012

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27 August 2017

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27 August 2017

volume

37

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27 August 2017

issue

6

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27 August 2017

page(s)

598-610

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Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Myocardial substrate metabolism in the normal and failing heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Liver disease in pregnancy and fetal fatty acid oxidation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Carnitine transport: pathophysiology and metabolism of known molecular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Mitochondrial energy metabolism in heart failure: a question of balance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Monogenic mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

The molecular basis of lysosomal storage diseases and their treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Management guidelines for mucopolysaccharidosis VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Sanfilippo syndrome: a mini-review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiac manifestations of Anderson-Fabry disease in children and adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

The heart in Anderson-Fabry disease and other lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiovascular malformations in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Lysosomal glycogen storage disease with normal acid maltase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Molecular characterization of glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

[Glycogenosis type IV as a seldom cause of cardiomyopathy - report about a successful heart transplantation]

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Prospective treatment in carnitine-acylcarnitine translocase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Metabolic cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00059-012-3659-0

Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy

21 January 2018

1 reference

12 December 2020

Cardiovascular changes in children with mucopolysaccharide disorders

1 reference

12 December 2020

Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation

1 reference

12 December 2020

Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome

1 reference

12 December 2020

Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency

1 reference

12 December 2020

Extension of the clinical spectrum of Danon disease

1 reference

12 December 2020

Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I

1 reference

12 December 2020

Menatetrenone, a vitamin K2 analog, ameliorates cytopenia in patients with refractory anemia of myelodysplastic syndrome

1 reference

12 December 2020

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

12 December 2020

Treatment perspectives for the lysosomal storage diseases

1 reference

12 December 2020

Cardiomyopathy of glycogen storage disease type III

1 reference

12 December 2020

Cardiac arrest in a young marathon runner

1 reference

12 December 2020

Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)

1 reference

12 December 2020

Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders

1 reference

12 December 2020

Successful treatment of severe heart failure in an infant with Hurler syndrome

1 reference

12 December 2020

Review: Metabolic cardiomyopathy and conduction system defects in children

1 reference

12 December 2020

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

1 reference

12 December 2020

Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy

1 reference

12 December 2020

Pharmacological chaperone therapy for lysosomal storage disorders - leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins

1 reference

12 December 2020

Sudden death in Hunter syndrome caused by complete atrioventricular block

1 reference

12 December 2020

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

1 reference

12 December 2020

[GM1 gangliosidosis and dilated cardiomyopathy]

1 reference

12 December 2020

10.1007/S00059-012-3659-0

Identifiers

DOI

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27 August 2017

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