Lista de obras - Pratik Shah - Dominio Público Uruguay

An auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken

artículo científico publicado en 2024

Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene.

artículo científico publicado en 2017

COVID-19 in Children and Adolescents with Endocrine Conditions

artículo científico publicado en 2020

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

scientific article published on 01 November 2014

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations

artículo científico publicado en 2014

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

scientific article published on 15 June 2018

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"

artículo científico publicado en 2019

Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor

artículo científico publicado en 2016

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia

artículo científico publicado en 2014

Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.

artículo científico publicado en 2016

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

artículo científico publicado en 2021

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype

artículo científico publicado en 2016

Hyperinsulinaemic hypoglycaemia in children and adults.

artículo científico publicado en 2016

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

scientific article published on 07 March 2019

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

artículo científico publicado en 2020

Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy

artículo científico publicado en 2014

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation

scientific article published on 11 February 2019

Persistent hyperinsulinaemic hypoglycaemia in infancy

artículo científico publicado en 2014

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

artículo científico publicado en 2018

Postprandial hyperinsulinaemic hypoglycaemia secondary to a congenital portosystemic shunt.

artículo científico publicado en 2015

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

scientific article published on 08 October 2019

Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy

artículo científico publicado en 2016

Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation

artículo científico publicado en 2017

Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.

artículo científico publicado en 2015

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

artículo científico publicado en 2014

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

artículo científico publicado en 2015

The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia

scientific article published on 16 August 2018

Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia

artículo científico publicado en 2018

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

artículo científico publicado en 2021

Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.

artículo científico publicado en 2015

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

scientific article published on 06 February 2020

Lista de obras de Pratik Shah

An auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken

Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene.

COVID-19 in Children and Adolescents with Endocrine Conditions

Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"

Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia

Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype

Hyperinsulinaemic hypoglycaemia in children and adults.

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation

Persistent hyperinsulinaemic hypoglycaemia in infancy

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

Postprandial hyperinsulinaemic hypoglycaemia secondary to a congenital portosystemic shunt.

Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome

Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy

Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation

Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia

Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389