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List of works by Charles A Stanley

50 years ago in the Journal of pediatrics: Ketotic hypoglycemia

scientific article published in June 2014

A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM)

scientific article published on 22 February 2007

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

scientific article

A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy

scientific article published in March 2004

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

scientific article

A novel atypical presentation of insulin autoimmune syndrome (Hirata's disease) in a child

scientific article

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

scientific article

A signaling role of glutamine in insulin secretion

scientific article published on 20 January 2004

A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism

scientific article published on 01 February 2011

A syndrome of congenital hyperinsulinism and hyperammonemia

scientific article published in April 1997

Aberrant mRNA Splicing Associated with Coding Region Mutations in Children with Carnitine-Acylcarnitine Translocase Deficiency

scientific article published on 01 September 2001

Acarbose treatment of postprandial hypoglycemia in children after Nissen fundoplication.

scientific article

Accidental poisoning with 50 per cent glucose solution: the danger of large stock bottles.

scientific article

Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism

scientific article published on February 2013

Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism

scientific article published on 25 September 2007

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

scientific article published in February 2004

Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome

scientific article

Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]

Advances in Diagnosis and Treatment of Hyperinsulinism in Infants and Children

scientific article published on 01 November 2002

Amino Acid-Stimulated Insulin Secretion: The Role of the Glutamine-Glutamate-Alpha-Ketoglutarate Axis

Blood glucose control during selective arterial stimulation and venous sampling for localization of focal hyperinsulinism lesions in anesthetized children

scientific article published in October 2004

Carnitine deficiency disorders in children

scientific article

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

scientific article published in November 2002

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations

scientific article

Characterization and functional restoration of a potassium channel Kir6.2 pore mutation identified in congenital hyperinsulinism

scientific article

Clinical Features of Neonates with Hyperinsulinism

scientific article published on 01 August 1999

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

scientific article published in September 2003

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

scientific article

Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism

scientific article published in February 2006

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations

scientific article published on 22 December 2012

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

scientific article

Congenital Hyperinsulinism

scientific article published on 01 October 2004

Congenital Hyperinsulinism Due to Activating Mutations of Glutamate Dehydrogenase: The Hyperinsulinism/Hyperammonemia Syndrome

Congenital hyperinsulinism and the surgeon: lessons learned over 35 years.

scientific article

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

scientific article

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism

scientific article

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

scientific article published on May 1993

Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia.

scientific article published on 09 July 2013

Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.

scientific article

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1

scientific article

Dietary-dependent carnitine deficiency as a causeof nonketotic hypoglycemia in an infant

scientific article published on 01 October 1981

Disorders of Carbohydrate Metabolism

Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

Dissecting the spectrum of fatty acid oxidation disorders

scientific article published on 01 March 1998

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

scientific article published on 13 July 2013

Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice

scientific article published on 30 March 2006

Effects of hypoglycemia on developmental outcome in children with congenital hyperinsulinism

scientific article published in April 2005

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

scientific article published on 01 January 1992

Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt

scientific article

Evolution of glutamate dehydrogenase regulation of insulin homeostasis is an example of molecular exaptation

scientific article published in November 2004

Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion

scientific article

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

article published in 2002

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations

scientific article published on 31 March 2009

Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder

scientific article published on November 1991

Familial hyperinsulinism caused by an activating glucokinase mutation

Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

scientific article published on 01 January 1998

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

scientific article published in September 2004

Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

scientific article published in October 1997

First prenatal diagnosis of the carnitine transporter defect

scientific article published on 01 December 1996

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes

scientific article

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation

scientific article published on 01 June 2006

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

scientific article

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel

scientific article

Genetic heterogeneity in familial hyperinsulinism.

scientific article

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes

scientific article published on 23 November 2004

Glucokinase activation repairs defective bioenergetics of islets of Langerhans isolated from type 2 diabetics

scientific article published on 27 September 2011

Glutamate dehydrogenase: structure, allosteric regulation, and role in insulin homeostasis

scientific article published on 12 October 2013

Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.

scientific article published in February 1980

Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency

scientific article published on 01 January 1995

Green Tea Polyphenols Control Dysregulated Glutamate Dehydrogenase in Transgenic Mice by Hijacking the ADP Activation Site

scientific article

Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase

scientific article published on 13 February 2006

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

scientific article

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

scientific article published in July 2003

Historical Perspective on the Genetic Forms of Congenital Hyperinsulinism

Hyperinsulinism Due to Activating Mutations of Glucokinase

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

scientific article

Hyperinsulinism in infancy and childhood: when an insulin level is not always enough

scientific article published on 21 December 2007

Hyperinsulinism of Infancy: Localization of Focal Forms

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

scientific article published on April 2004

Hyperinsulinismus bei Säuglingen und Kindern: wenn ein Insulinspiegel nicht immer ausreicht / Hyperinsulinism in infancy and childhood: when an insulin level is not always enough 1)

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism

scientific article published on February 2013

Hypoglycemia

article published in 2004

Hypoglycemia in Neonates and Infants

Hypoglycemia in the Infant and Child

Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b.

scientific article published on January 1993

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

scientific article

Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism.

scientific article published in August 1997

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism

scientific article published in January 1999

Intussusception after pancreatic surgery in children: a case series

scientific article published on July 2010

Linkage-disequilibrium mapping without genotyping

scientific article published on 01 March 1998

Management of hyperinsulinism in infants

scientific article published on 01 November 1991

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects

scientific article published on 18 October 2012

Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase

scientific article

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

scientific article published on January 2007

Mechanisms of octanoic acid potentiation of insulin secretion in isolated islets

scientific article published on 08 March 2019

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

scientific article published in November 1986

Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon release

scientific article

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

scientific article published in August 1997

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

scientific article published in January 2006

Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism.

scientific article published in January 2007

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Mutational analysis of allosteric activation and inhibition of glucokinase

scientific article published on December 2011

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

scientific article

Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism

scientific article published on 25 June 2009

Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease

scientific article published on 01 March 1993

Nesidioblastosis No Longer! It's All about Genetics

article

Neurological aspects in hyperinsulinism-hyperammonaemia syndrome

scientific article

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis

scientific article published on November 2003

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

scientific article published on 16 July 2012

Pancreatic adenomas in infants and children: current surgical management

scientific article published on December 1978

Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism

scientific article published on January 2012

Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism

scientific article

Parsing ketotic hypoglycaemia.

scientific article

Pathophysiology of Diffuse ATP-Sensitive Potassium Channel Hyperinsulinism

Pathophysiology of Hypoglycemia

Plasma ketones in newborn infants: Absence of suckling ketosis

scientific article published on 01 April 1981

Poor specificity of low growth hormone and cortisol levels during fasting hypoglycemia for the diagnoses of growth hormone deficiency and adrenal insufficiency

scientific article published on 11 August 2008

Postmortem Recognition of Fatty Acid Oxidation Disorders

scientific article published on 01 May 1991

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

scientific article published on 13 April 2010

Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case Report

scientific article published on 12 September 2006

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation

scientific article (publication date: 2004)

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

scientific article

Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by KATP channel mutations

scientific article published on 01 July 2006

Rare forms of congenital hyperinsulinism

scientific article published on February 2011

Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management

scientific article

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

article

Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine

scientific article published on 24 December 2012

Regulation of glutamate metabolism and insulin secretion by glutamate dehydrogenase in hypoglycemic children

scientific article

Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets

scientific article published on 19 November 2002

Reply

Reply to: Discordance for hyperinsulinemic hypoglycemia in monozygotic twins

Research initiatives in neonatal hypoglycemia

scientific article published on 20 March 2010

Sex differences in binding of human growth hormone to isolated rat hepatocytes

scientific article published on March 1, 1976

Short-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Associates with a Protein Super-Complex Integrating Multiple Metabolic Pathways

scientific article published on April 9, 2012

Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation

scientific article (publication date: April 2003)

Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation

scientific article

Sudden neonatal death in carnitine transporter deficiency

scientific article published in August 1997

Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure

scientific article

Systemic carnitine deficiency simulating Reye syndrome

scientific article published on 01 October 1984

The Causes of Neonatal Hypoglycemia

scientific article published on 01 April 1999

The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography

scientific article published on 9 May 2006

The hyperinsulinism/hyperammonemia syndrome

scientific article

The structure and allosteric regulation of glutamate dehydrogenase

scientific article

The structure and allosteric regulation of mammalian glutamate dehydrogenase

scientific article published on 4 November 2011

The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.

scientific article published in November 1998

The structure of apo human glutamate dehydrogenase details subunit communication and allostery

scientific article

The surgical management of insulinomas in children

scientific article

The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis

scientific article published on February 2013

Title Page / List of Contents / Preface

Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase

scientific article published on 02 December 2010

Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells

scientific article published on 12 December 2013

Untangling the glutamate dehydrogenase allosteric nightmare

scientific article published on 24 September 2008

When to Screen for Neonatal Hypoglycemia