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Pompe disease diagnosis and management guideline
Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services.Expand
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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
Objective: To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. Background: Muscle CoQ10 deficiency has been reported only in a few patientsExpand
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Epimerase-deficiency galactosemia is not a binary condition.
Epimerase-deficiency galactosemia results from the impairment of UDP-galactose 4'-epimerase (GALE), the third enzyme in the Leloir pathway of galactose metabolism. Originally identified as aExpand
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Identification of two subtypes of infantile acid maltase deficiency.
Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. WeExpand
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A preliminary study of growth hormone therapy for Crohn's disease.
BACKGROUND Crohn's disease is a chronic inflammatory disorder of the bowel. In a preliminary study, we evaluated whether the administration of growth hormone (somatropin) as well as a high-proteinExpand
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Modification of the natural history of adult‐onset acid maltase deficiency by nutrition and exercise therapy
Adult‐onset acid maltase deficiency is an inherited lysosomal skeletal‐muscle disease characterized by progressive myopathy and respiratory failure, for which there is no known therapy. In anExpand
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Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease.
Glycogen storage diseases (GSDs) comprise a large, heterogeneous group of disorders characterized by abnormal glycogen deposition. Multiple cases in the literature have demonstrated an associationExpand
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Metabolic and clinical response to recombinant human insulin-like growth factor I in myotonic dystrophy--a clinical research center study.
Muscle weakness and wasting in myotonic dystrophy (MyD) are believed to be due to a decrease in muscle protein synthesis, secondary to insulin resistance. A 4-month, randomized, double blind,Expand
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Beneficial effect of diazoxide in obese hyperinsulinemic adults.
UNLABELLED Hyperinsulinemia, insulin resistance, and increased adipose tissue are hallmarks of the obesity state in both humans and experimental animals. The role of hyperinsulinemia as a possibleExpand
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Diencephalic syndrome revisited.
This report details the histories of five patients with clinical diencephalic syndrome who collectively demonstrate the variability found in the syndrome with respect to: (1) clinical course, (2)Expand
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