Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Enhanced gene expression of systemically administered plasmid DNA in the liver with therapeutic ultrasound and microbubbles

(2013) B. I. Raju et al.   IEEE TRANSACTIONS ON ULTRASONICS FERROELECTRICS AND FREQUENCY CONTROL

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia

(2013) Elizabeth Drake Brooks et al.   MOLECULAR GENETICS AND METABOLISM

Menorrhagia in Patients With Type I Glycogen Storage Disease

(2013) Stephanie L. Austin et al.   OBSTETRICS AND GYNECOLOGY

Clinical Outcome of Hepatocyte Transplantation in Four Pediatric Patients with Inherited Metabolic Diseases

(2012) Carmen Ribes-Koninckx et al.   CELL TRANSPLANTATION

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib

(2012) David Q. Wang et al.   GENETICS IN MEDICINE

Bone mineral density in glycogen storage disease type Ia and Ib

(2012) Laurie A. Minarich et al.   GENETICS IN MEDICINE

Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy

(2012) Young Mok Lee et al.   HEPATOLOGY

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

(2012) Annalisa Sechi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b

(2012) Chiaki Karaki et al.   PEDIATRIC TRANSPLANTATION

Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature

(2011) Anurag Maheshwari et al.   CLINICAL TRANSPLANTATION

Long-Term Efficacy Following Readministration of an Adeno-Associated Virus Vector in Dogs with Glycogen Storage Disease Type Ia

(2011) Amanda Demaster et al.   HUMAN GENE THERAPY

Dietary dilemmas in the management of glycogen storage disease type I

(2011) Kaustuv Bhattacharya   JOURNAL OF INHERITED METABOLIC DISEASE

The use of continuous glucose monitoring in the practical management of glycogen storage disorders

(2011) Fiona J. White et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural History of Hepatocellular Adenoma Formation in Glycogen Storage Disease Type I

(2011) David Q. Wang et al.   JOURNAL OF PEDIATRICS

Hepatorenal Correction in Murine Glycogen Storage Disease Type I With a Double-stranded Adeno-associated Virus Vector

(2011) Xiaoyan Luo et al.   MOLECULAR THERAPY

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Glucose-6-phosphatase deficiency

(2011) Roseline Froissart et al.   Orphanet Journal of Rare Diseases

Preemptive Liver–Kidney Transplantation in Von Gierke Disease: A Case Report

(2011) A. Marega et al.   TRANSPLANTATION PROCEEDINGS

Glucose dysregulation associated with antidepressant agents: an analysis of 17 published case reports

(2011) Star Khoza et al.   International Journal of Clinical Pharmacy

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

(2010) Anibh M. Das et al.   ANNALS OF NUTRITION AND METABOLISM

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la

(2010) Ching-Wan Lam et al.   CLINICAL GENETICS

Drug-Induced Hypoglycaemia

(2010) Chaker Ben Salem et al.   DRUG SAFETY

Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type Ia

(2010) David A. Weinstein et al.   HUMAN GENE THERAPY

Ischemic stroke in an adult with glycogen storage disease type I

(2010) J.M. Goulart et al.   JOURNAL OF CLINICAL NEUROSCIENCE

An adult male patient with multiple adenomas and a hepatocellular carcinoma: Mild Glycogen Storage Disease type Ia

(2010) David Cassiman et al.   JOURNAL OF HEPATOLOGY

Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas

(2010) Elodie Mutel et al.   JOURNAL OF HEPATOLOGY

Echocardiographic Indexes for the Non-Invasive Evaluation of Pulmonary Hemodynamics

(2010) Alberto Milan et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Oxidative stress mediates nephropathy in type Ia glycogen storage disease

(2010) Wai Han Yiu et al.   LABORATORY INVESTIGATION

Neonatal Gene Therapy of Glycogen Storage Disease Type Ia Using a Feline Immunodeficiency Virus–based Vector

(2010) Albert Grinshpun et al.   MOLECULAR THERAPY

Complete Normalization of Hepatic G6PC Deficiency in Murine Glycogen Storage Disease Type Ia Using Gene Therapy

(2010) Wai Han Yiu et al.   MOLECULAR THERAPY

Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function

(2010) Abdulrahman Alsultan et al.   PEDIATRIC BLOOD & CANCER

Efficacy of Oral Sildenafil in a Beraprost-Treated Patient With Severe Pulmonary Hypertension Secondary to Type I Glycogen Storage Disease

(2009) Michihiko Ueno et al.   CIRCULATION JOURNAL

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

(2009) D. H. J. Martens et al.   Clinical Journal of the American Society of Nephrology

Neutropenia in type Ib glycogen storage disease

(2009) Janice Y Chou et al.   CURRENT OPINION IN HEMATOLOGY

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease

(2009) Priya S. Kishnani et al.   HUMAN MOLECULAR GENETICS

Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice

(2009) Wai Han Yiu et al.   JOURNAL OF HEPATOLOGY

Liver transplantation for glycogen storage disease type Ia

(2009) Srinevas K. Reddy et al.   JOURNAL OF HEPATOLOGY

New Equations to Estimate GFR in Children with CKD

(2009) G. J. Schwartz et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Hypovitaminosis D in glycogen storage disease type I

(2009) Suhrad G. Banugaria et al.   MOLECULAR GENETICS AND METABOLISM

Perioperative Management of Patients with Glycogen Storage Disease Type Ia

(2009) Justin Lipper et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Emerging therapies for glycogen storage disease type I

(2009) D.D. Koeberl et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Pregnancies in glycogen storage disease type Ia

(2008) Daniëlle H.J. Martens et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

(2008) S. Y. Kim et al.   BLOOD

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

(2008) D. Melis et al.   EUROPEAN JOURNAL OF PEDIATRICS

Indications for Liver Transplantation

(2008) Jacqueline G. O'Leary et al.   GASTROENTEROLOGY

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

(2008) Janice Y. Chou et al.   HUMAN MUTATION

Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia

(2008) So Youn Kim et al.   JOURNAL OF HEPATOLOGY

AAV Vector-mediated Reversal of Hypoglycemia in Canine and Murine Glycogen Storage Disease Type Ia

(2008) Dwight D Koeberl et al.   MOLECULAR THERAPY

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

(2008) Robert H J Bandsma et al.   PEDIATRIC RESEARCH

Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism

(2008) D. J. Zand et al.   PEDIATRICS

Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia

(2007) W.H. Yiu et al.   KIDNEY INTERNATIONAL