Sarah E Flanagan

Sarah E Flanagan

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Sarah E Flanagan

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Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.

Indian J Pediatr 2019 Nov 22;86(11):1051-1053. Epub 2019 May 22.

Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://link.springer.com/10.1007/s12098-019-02980-x
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http://dx.doi.org/10.1007/s12098-019-02980-xDOI Listing
November 2019

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.

J Pathol Clin Res 2019 Oct 2. Epub 2019 Oct 2.

Molecular Genetics, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1002/cjp2.144DOI Listing
October 2019

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

Clin Endocrinol (Oxf) 2019 May 7;90(5):766-769. Epub 2019 Mar 7.

Endocrinology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/cen.13951DOI Listing
May 2019

Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation.

Endocrinol Diabetes Metab Case Rep 2019 May 16;2019. Epub 2019 May 16.

Department of Paediatric Endocrinology, Variety Club Children's Hospital, King's College Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1530/EDM-19-0013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528403PMC
May 2019

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Pediatr Dev Pathol 2019 Jan-Feb;22(1):65-69. Epub 2018 Mar 20.

4 Department of Paediatric Histopathology, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1177/1093526618765376DOI Listing
March 2019

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

J Pediatr Endocrinol Metab 2019 Mar;32(3):301-304

Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom.

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http://dx.doi.org/10.1515/jpem-2018-0389DOI Listing
March 2019

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes.

Curr Diab Rep 2019 Mar 19;19(5):20. Epub 2019 Mar 19.

Translational Research Program, Benaroya Research Institute at Virginia Mason, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s11892-019-1141-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424922PMC
March 2019

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

Endocrinol Diabetes Metab Case Rep 2019 Feb 11;2019. Epub 2019 Feb 11.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1530/EDM-18-0120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373619PMC
February 2019

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Clin Endocrinol (Oxf) 2018 11 20;89(5):621-627. Epub 2018 Sep 20.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1111/cen.13841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283248PMC
November 2018

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

J Clin Endocrinol Metab 2018 09;103(9):3225-3230

Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-02662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126890PMC
September 2018

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Pediatr Diabetes 2018 08 27;19(5):898-904. Epub 2018 Mar 27.

Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

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http://dx.doi.org/10.1111/pedi.12669DOI Listing
August 2018

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

J Pediatr Endocrinol Metab 2018 Aug;31(8):943-945

Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1515/jpem-2018-0112DOI Listing
August 2018

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

J Clin Res Pediatr Endocrinol 2018 07 8;10(3):279-283. Epub 2017 Dec 8.

University of Health Sciences, Diyarbakır Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey

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http://dx.doi.org/10.4274/jcrpe.5335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083472PMC
July 2018

Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement.

Diabetologia 2017 Nov 5;60(11):2168-2173. Epub 2017 Aug 5.

National Institute for Health Research (NIHR) Exeter Clinical Research Facility, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1007/s00125-017-4383-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907681PMC
November 2017

An Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):260-264. Epub 2017 Jun 30.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom.

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http://dx.doi.org/10.4274/jcrpe.4624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808PMC
September 2017

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

J Pediatr Endocrinol Metab 2017 Apr;30(4):471-474

Genetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme, UCL Institute Child Health, London.

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http://dx.doi.org/10.1515/jpem-2016-0345DOI Listing
April 2017

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Diagn Pathol 2017 Jan 3;12(1). Epub 2017 Jan 3.

Division of Pediatric Endocrinology Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Decarie, Montreal, H4A 3J1, Quebec, Canada.

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http://dx.doi.org/10.1186/s13000-016-0592-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893PMC
January 2017

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.

J Clin Res Pediatr Endocrinol 2016 12 16;8(4):478-481. Epub 2016 May 16.

Ankara Children's Hematology-Oncology Training and Research Hospital, Clinic of Neonatology, Ankara, Turkey, Phone: +90 312 596 97 30 E-mail:

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http://dx.doi.org/10.4274/jcrpe.2773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198009PMC
December 2016

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations.

Clin Chem 2016 11 8;62(11):1536-1538. Epub 2016 Sep 8.

Institute of Biomedical and Clinical Science University of Exeter Medical School, Exeter, Devon, UK

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http://dx.doi.org/10.1373/clinchem.2016.263624DOI Listing
November 2016

Monogenic autoimmune diseases of the endocrine system.

Lancet Diabetes Endocrinol 2016 10 26;4(10):862-72. Epub 2016 Jul 26.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(16)30095-XDOI Listing
October 2016

Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.

Indian Pediatr 2016 Oct;53(10):912-913

Department of Pediatrics, AIIMS, New Delhi, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, UK. Correspondence to: Dr Vandana Jain, Additional Professor, Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

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http://dx.doi.org/10.1007/s13312-016-0958-1DOI Listing
October 2016

Prematurity and Genetic Testing for Neonatal Diabetes.

Pediatrics 2016 09 18;138(3). Epub 2016 Aug 18.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049686PMC
http://dx.doi.org/10.1542/peds.2015-3926DOI Listing
September 2016

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Diabetes Res Clin Pract 2016 Jul 26;117:104-10. Epub 2016 Apr 26.

Section of Nutrition and Diabetes, Children's General Hospital "Dr. Pedro de Elizalde", Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.diabres.2016.04.005DOI Listing
July 2016

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

J Clin Res Pediatr Endocrinol 2016 Jun 18;8(2):197-204. Epub 2015 Dec 18.

Göztepe Training and Research Hospital, Clinic of Pediatric Endocrinology, İstanbul, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.2408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096476PMC
June 2016

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Eur J Hum Genet 2015 Dec 12;23(12):1744-8. Epub 2015 Aug 12.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1038/ejhg.2015.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795203PMC
December 2015

Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!

Indian J Hematol Blood Transfus 2015 Sep 1;31(3):394-5. Epub 2014 Jul 1.

Pediatric Hematology Oncology & BMT Unit, Department of Pediatrics, Fortis Memorial Research Institute, Sector 44, Gurgaon, 122002 Haryana India.

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http://link.springer.com/10.1007/s12288-014-0421-1
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http://dx.doi.org/10.1007/s12288-014-0421-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465505PMC
September 2015

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

BMC Res Notes 2015 Aug 13;8:350. Epub 2015 Aug 13.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1186/s13104-015-1319-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535259PMC
August 2015

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Eur J Endocrinol 2015 Jun 9;172(6):697-705. Epub 2015 Mar 9.

Departments of Paediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKThe Institute of Child HealthUniversity College London, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyChildren State Hospital, 21100 Diyarbakir, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartments of NeonatologyChildren State Hospital, 21100 Diyarbakir, TurkeyDepartment of Medical Biology and GeneticsDicle University, 21100 Diyarbakir, TurkeyFaculty of MedicineUniversity of Southampton, Southampton SO16 6YD, UK Departments of Paediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKThe Institute of Child HealthUniversity College London, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyChildren State Hospital, 21100 Diyarbakir, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartments of NeonatologyChildren State Hospital, 21100 Diyarbakir, TurkeyDepartment of Medical Biology and GeneticsDicle University, 21100 Diyarbakir, TurkeyFaculty of MedicineUniversity of Southampton, Southampton SO16 6YD, UK

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http://dx.doi.org/10.1530/EJE-14-0852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411707PMC
June 2015

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

J Clin Res Pediatr Endocrinol 2015 Jun;7(2):144-7

Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 595 66 35 E-mail:

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http://dx.doi.org/10.4274/jcrpe.1963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563187PMC
June 2015

Nifedipine in Congenital Hyperinsulinism - A Case Report.

J Clin Res Pediatr Endocrinol 2015 Jun;7(2):151-4

Park Clinic, Clinic of Paediatrics and Neonatology, Kolkata, India Phone: +91 9831135350 E-mail:

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http://dx.doi.org/10.4274/jcrpe.1978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563189PMC
June 2015

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism.

PLoS One 2014 19;9(5):e98054. Epub 2014 May 19.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Institute of Child Health, University College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0098054PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026387PMC
January 2015

A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant.

J Clin Res Pediatr Endocrinol 2014 ;6(2):119-21

Mersin State Hospital, Department of Pediatric Endocrinology, Mersin, Turkey. E-mail:

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http://dx.doi.org/10.4274/Jcrpe.1230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141574PMC
January 2015

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Hum Mol Genet 2014 Dec 11;23(24):6432-40. Epub 2014 Jul 11.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddu360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240195PMC
December 2014

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

Eur J Endocrinol 2014 Dec 8;171(6):685-95. Epub 2014 Sep 8.

Developmental Endocrinology Research GroupClinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKLondon Centre for Paediatric EndocrinologyGreat Ormond Street Hospital for Children, London WC1N 3JH, UKInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UK Developmental Endocrinology Research GroupClinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKLondon Centre for Paediatric EndocrinologyGreat Ormond Street Hospital for Children, London WC1N 3JH, UKInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UK

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http://dx.doi.org/10.1530/EJE-14-0353DOI Listing
December 2014

Neurogenin 3 is important but not essential for pancreatic islet development in humans.

Diabetologia 2014 Nov 14;57(11):2421-4. Epub 2014 Aug 14.

Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Avda. Menéndez Pelayo 65, 28007 Madrid, Spain,

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http://dx.doi.org/10.1007/s00125-014-3349-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181041PMC
November 2014

Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.

Diabetes Res Clin Pract 2014 Nov 22;106(2):e22-4. Epub 2014 Sep 22.

Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1016/j.diabres.2014.09.003DOI Listing
November 2014

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

J Clin Endocrinol Metab 2014 Oct 17;99(10):3660-7. Epub 2014 Jun 17.

Developmental Endocrinology Research Group (H.D., P.S., V.B.A., L.H., K.H.), Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; Department of Paediatric Endocrinology (H.D., P.S., V.B.A., L.H., K.H.), Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom; and Institute of Biomedical and Clinical Science (S.E.F., S.E.), University of Exeter Medical School, Exeter EX2 5DW, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-1866DOI Listing
October 2014

Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra.

Turk J Pediatr 2013 Nov-Dec;55(6):584-90

Division of Pediatric Endocrinology, Department of Pediatrics University College London, London, United Kingdom.

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August 2014

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

Eur J Endocrinol 2014 Jun 31;170(6):885-92. Epub 2014 Mar 31.

Departments of NeonatologyPaediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKDevelopmental Endocrinology Research GroupMolecular Genetics Unit, The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyAnkara Children's Hematology and Oncology Training Hospital, Ankara, TurkeyDepartments of Paediatric EndocrinologyChildren State Hospital, Diyarbakır, TurkeyDepartments of Paediatric EndocrinologyInönü University, Malatya, TurkeyDepartments of Paediatric EndocrinologyYüzüncü Yıl University, Van, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartment of Medical Biology and GeneticsDicle University, Diyarbakır, TurkeyDepartments of NeonatologyPaediatric EndocrinologyGreat Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UKDevelopmental Endocrinology Research GroupMolecular Genetics Unit, The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UKDepartments of Paediatric EndocrinologyAnkara Children's Hematology and Oncology Training Hospital, Ankara, TurkeyDepartments of Paediatric EndocrinologyChildren State Hospital, Diyarbakır, TurkeyDepartments of Paediatric EndocrinologyInönü University, Malatya, TurkeyDepartments of Paediatric EndocrinologyYüzüncü Yıl University, Van, TurkeyInstitute of Biomedical and Clinical ScienceUniversity of Exeter Medical School, Exeter EX2 5DW, UKDepartment of Medical Biology and GeneticsDicle University, Diyarbakır, Turkey

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http://dx.doi.org/10.1530/EJE-14-0045DOI Listing
June 2014

Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.

J Clin Endocrinol Metab 2014 Feb 27;99(2):391-4. Epub 2013 Nov 27.

London Centre for Paediatric Endocrinology (V.B.A., K.H.), Great Ormond Street Hospital for Children National Health Service Foundation Trust, London WC1N 3JH, United Kingdom; The Institute of Child Health (V.B.A., K.H.), University College London, London WC1N 1EH, United Kingdom; Institute of Biomedical and Clinical Science (S.E.F., S.E.), University of Exeter Medical School, Exeter EX2 5DW, United Kingdom; and Department of Pediatrics (E.S., B.R.-M.), Medical University of Vienna, 1090 Vienna, Austria.

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http://dx.doi.org/10.1210/jc.2013-3228DOI Listing
February 2014

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.

J Clin Res Pediatr Endocrinol 2013 ;5(2):125-8

Şişli Etfal Education and Research Hospital, Division of Pediatric Endocrinology, İstanbul, Turkey.

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http://dx.doi.org/10.4274/Jcrpe.928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701919PMC
January 2014

Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea.

J Pediatr Gastroenterol Nutr 2013 Oct;57(4):e21

*Department of Pediatric Gastroenterology †Department of Pathology, Akdeniz University Faculty of Medicine, Antalya, Turkey ‡Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1097/MPG.0b013e3182560f26DOI Listing
October 2013

Extremely rare cause of congenital diarrhea: enteric anendocrinosis.

Pediatr Int 2013 Oct;55(5):661-3

Department of Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey.

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http://dx.doi.org/10.1111/ped.12169DOI Listing
October 2013

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Pediatr Diabetes 2013 Aug 4;14(5):384-7. Epub 2013 Jan 4.

Department of Pediatrics, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1111/j.1399-5448.2012.00921.xDOI Listing
August 2013

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.

Arch Dis Child Fetal Neonatal Ed 2013 Jul 29;98(4):F356-8. Epub 2013 Jan 29.

Developmental Endocrinology Research Group, Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, UK.

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http://fn.bmj.com/lookup/doi/10.1136/archdischild-2012-30288
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http://dx.doi.org/10.1136/archdischild-2012-302880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3686249PMC
July 2013

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Eur J Endocrinol 2013 Apr 15;168(4):557-64. Epub 2013 Mar 15.

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, The Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1530/EJE-12-0673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599069PMC
April 2013

Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.

BMJ Case Rep 2013 Apr 5;2013. Epub 2013 Apr 5.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/bcr-2013-008767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645779PMC
April 2013

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Eur J Med Genet 2013 Feb 20;56(2):114-7. Epub 2012 Dec 20.

Department of Paediatric Oncology, University Hospital Southampton Foundation Trust, Southampton, UK.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.001DOI Listing
February 2013

Galactokinase deficiency in a patient with congenital hyperinsulinism.

JIMD Rep 2012 13;5:7-11. Epub 2011 Dec 13.

Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://link.springer.com/10.1007/8904_2011_110
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http://dx.doi.org/10.1007/8904_2011_110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509914PMC
February 2013

Permanent neonatal diabetes caused by a novel mutation in the INS gene.

Diabetes Res Clin Pract 2013 Jan 27;99(1):e5-8. Epub 2012 Oct 27.

Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.diabres.2012.10.009DOI Listing
January 2013

Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.

Eur J Endocrinol 2012 Sep 30;167(3):417-21. Epub 2012 May 30.

Department of Molecular Genetics, Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Barrack Road, Exeter EX2 5DW, UK.

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http://dx.doi.org/10.1530/EJE-12-0227DOI Listing
September 2012

Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children.

Diabetes Res Clin Pract 2012 Sep 30;97(3):e41-4. Epub 2012 Jun 30.

Pediatric Endocrinology Unit, Hospital Universitario Prof. Edgard Santos, Faculty of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.

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http://dx.doi.org/10.1016/j.diabres.2012.05.025DOI Listing
September 2012

Permanent neonatal diabetes caused by a novel mutation.

Indian Pediatr 2012 Jun;49(6):486-8

Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-012-0093-6DOI Listing
June 2012

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Nat Genet 2011 Dec 11;44(1):20-22. Epub 2011 Dec 11.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1038/ng.1035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962PMC
December 2011