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List of works by Pratik Shah

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

scientific article published on 23 July 2024

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

scientific article published in March 2017

COVID-19 in Children and Adolescents with Endocrine Conditions

scientific article published on 08 September 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

scientific article published on 08 September 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"

scientific article published on 01 January 2019

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

scientific article published on 22 November 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

scientific article published in December 2014

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

scientific article published on 22 December 2016

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

scientific article published on 11 May 2021

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

scientific article published in June 2016

Hyperinsulinaemic hypoglycaemia in children and adults.

scientific article published on 30 November 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

scientific article published on 17 March 2020

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

scientific article published on 17 June 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

scientific article

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children

scientific article published on 09 August 2018

Postprandial hyperinsulinaemic hypoglycaemia secondary to a congenital portosystemic shunt.

scientific article

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

scientific article published on 11 February 2016

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

scientific article

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

scientific article

Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia

scientific article published in March 2014

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

scientific article (publication date: June 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

scientific article published on 8 October 2018

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

scientific article published on 13 April 2021

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

scientific article published on 17 September 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

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