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The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2726-2732

2012

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Cardiac and clinical phenotype in Barth syndrome

Pediatrics (Evanston), 2006-08, Vol.118 (2), p.e337-e346

2006

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Reproducibility of Echocardiographic Diagnosis of Left Ventricular Noncompaction

Journal of the American Society of Echocardiography, 2012-02, Vol.25 (2), p.194-202

2012

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Barth syndrome

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.23-23, Article 23

2013

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Pompe disease diagnosis and management guideline

Genetics in medicine, 2006-05, Vol.8 (5), p.267-288

2006

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Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults

Human gene therapy, 2004-01, Vol.15 (1), p.93-128

2004

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Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.91-101

2013

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Estimating Equations for Cardiopulmonary Exercise Testing Variables in Fontan Patients: Derivation and Validation Using a Multicenter Cross-Sectional Database

Pediatric cardiology, 2015-02, Vol.36 (2), p.393-401

2015

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Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome

American journal of physiology. Heart and circulatory physiology, 2011-11, Vol.301 (5), p.H2122-H2129

2011

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REPRODUCIBILITY OF ECHOCARDIOGRAPHIC DIAGNOSIS OF VENTRICULAR NONCOMPACTION

Journal of the American College of Cardiology, 2011-04, Vol.57 (14), p.E468-E468

2011

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Impaired cardiac reserve and severely diminished skeletal muscle O 2 utilization mediate exercise intolerance in Barth syndrome

American journal of physiology. Heart and circulatory physiology, 2011-11, Vol.301 (5), p.H2122-H2129

2011

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728. Safety and Bioactivity of rAAV2-hAAT in alpha-1 Antitrypsin-Deficient Patients in a Phase I Clinical Trial

Molecular therapy, 2006-05, Vol.13 (S1), p.S281-S281

2006

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Total parenteral nutrition, an ally in the management of patients with intestinal failure and malnutrition: a long-term view

JPEN. Journal of parenteral and enteral nutrition, 2003-09, Vol.27 (5), p.374-381

2003

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An institutional review of the value of computed tomographic angiography in the diagnosis of congenital cardiac malformations

Cardiology in the young, 2005-02, Vol.15 (1), p.47-51

2005

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Dilated Cardiomyopathy and Myocarditis

Echocardiography in Pediatric and Congenital Heart Disease, 2009, p.557-580

2009

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Impaired cardiac reserve and severely diminished skeletal muscle O^sub 2^ utilization mediate exercise intolerance in Barth syndrome

American journal of physiology. Heart and circulatory physiology, 2011-11, Vol.301 (5), p.H2122

2011

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Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome

American journal of physiology. Heart and circulatory physiology, 2011, Vol.70 (5)

2011

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Abstract 2769: Impaired Skeletal Muscle Oxygen Utilization Contributes to Exercise Intolerance in Barth Syndrome

Circulation (New York, N.Y.), 2007-10, Vol.116 (suppl_16)

2007

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Dose Response Relationship in a Monocrotaline Rat Model of Pulmonary Hypertension

The FASEB journal, 2006-03, Vol.20 (5), p.A1186-A1186

2006

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MRI for Cardiac Evaluation of Pulmonary Hypertension in Rats

The FASEB journal, 2006-03, Vol.20 (5), p.A1412-A1412

2006

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Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

Circulation (New York, N.Y.), 2008-10, Vol.118 (suppl_18)

2008

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Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Serotype 2 ? 1 -Antitrypsin (AAT) Vector in AAT-Deficient Adults

Human gene therapy, 2006-12, p.61211062938001

2006

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Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults

Human gene therapy, 2006-12, Vol.17 (12), p.1177

2006

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Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Serotype 2 α 1-Antitrypsin (AAT) Vector in AAT-Deficient Adults

Human gene therapy, 2006-12, Vol.17 (12), p.1177-1186

2006

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Phase I Trial of Intramuscular Injection of a Recombinant Adeno-associated Virus Serotype 2 ? 1 -Antitrypsin (AAT) Vector in AAT-Deficient Adults

Human gene therapy, 2006-11, p.61121084323001

2006

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The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

Cardiac and clinical phenotype in Barth syndrome

Reproducibility of Echocardiographic Diagnosis of Left Ventricular Noncompaction

Barth syndrome

Pompe disease diagnosis and management guideline

Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

Estimating Equations for Cardiopulmonary Exercise Testing Variables in Fontan Patients: Derivation and Validation Using a Multicenter Cross-Sectional Database

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome

REPRODUCIBILITY OF ECHOCARDIOGRAPHIC DIAGNOSIS OF VENTRICULAR NONCOMPACTION

Impaired cardiac reserve and severely diminished skeletal muscle O 2 utilization mediate exercise intolerance in Barth syndrome

728. Safety and Bioactivity of rAAV2-hAAT in alpha-1 Antitrypsin-Deficient Patients in a Phase I Clinical Trial

Total parenteral nutrition, an ally in the management of patients with intestinal failure and malnutrition: a long-term view

An institutional review of the value of computed tomographic angiography in the diagnosis of congenital cardiac malformations

Dilated Cardiomyopathy and Myocarditis

Impaired cardiac reserve and severely diminished skeletal muscle O^sub 2^ utilization mediate exercise intolerance in Barth syndrome

Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome

Abstract 2769: Impaired Skeletal Muscle Oxygen Utilization Contributes to Exercise Intolerance in Barth Syndrome

Dose Response Relationship in a Monocrotaline Rat Model of Pulmonary Hypertension

MRI for Cardiac Evaluation of Pulmonary Hypertension in Rats

Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Serotype 2 ? 1 -Antitrypsin (AAT) Vector in AAT-Deficient Adults

Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults

Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Serotype 2 α 1-Antitrypsin (AAT) Vector in AAT-Deficient Adults

Phase I Trial of Intramuscular Injection of a Recombinant Adeno-associated Virus Serotype 2 ? 1 -Antitrypsin (AAT) Vector in AAT-Deficient Adults

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