Publications by authors named "Tarekegn Geberhiwot"

48Publications

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.

Diabetes 2020 09 29. Epub 2020 Sep 29.

INSERM, UMR_U1112, Ciliopathies modeling and associated therapies group, Laboratoire de Génétique Médicale, Fédération de Medecine Translationelle de Strasbourg, 11 rue Humann, Bâtiment 3, 67085 Strasbourg, France.

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http://dx.doi.org/10.2337/db20-0647DOI Listing
September 2020

Severe neurological crisis in adult patients with Tyrosinemia type 1.

Ann Clin Transl Neurol 2020 Aug 21. Epub 2020 Aug 21.

Department of Diabetes, Endocrinology and Metabolism, Queen Elizabeth Hospital Birmingham, NHS Foundation Trust, Birmingham, United Kingdom.

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http://dx.doi.org/10.1002/acn3.51160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480904PMC
August 2020

Prolonged confusional state as first manifestation of COVID-19.

Ann Clin Transl Neurol 2020 May 20. Epub 2020 May 20.

Institute of Metabolism and System Research, Birmingham, B15 2TH, UK.

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http://dx.doi.org/10.1002/acn3.51067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276856PMC
May 2020

Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease.

Circ Cardiovasc Imaging 2020 03 2;13(3):e010171. Epub 2020 Mar 2.

Institute of Cardiovascular Science, University College London, United Kingdom (J.B.A., S.N., M.A., K.K., G.C., T.K., J.C.M.).

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http://dx.doi.org/10.1161/CIRCIMAGING.119.010171DOI Listing
March 2020

Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy.

Circ Cardiovasc Imaging 2019 12 12;12(12):e009430. Epub 2019 Dec 12.

From the Institute of Cardiovascular Science, University College London, United Kingdom (S.N., J.B.A., K.D.K., G.C., T.A.T., J.C.M.).

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http://dx.doi.org/10.1161/CIRCIMAGING.119.009430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924943PMC
December 2019

Emotional health in early-treated adults with phenylketonuria (PKU): Relationship with cognitive abilities and blood phenylalanine.

J Clin Exp Neuropsychol 2020 03 1;42(2):142-159. Epub 2019 Dec 1.

School of Life and Health Sciences, Aston University, Birmingham, UK.

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http://dx.doi.org/10.1080/13803395.2019.1696753DOI Listing
March 2020

The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.

Clin Chim Acta 2020 Jan 22;500:120-127. Epub 2019 Oct 22.

University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981193206
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http://dx.doi.org/10.1016/j.cca.2019.10.005DOI Listing
January 2020

Acute psychosis in glycogen storage disease: a rare but severe complication.

BMJ Case Rep 2019 Jul 4;12(7). Epub 2019 Jul 4.

Department of Psychiatry, Queen Elizabeth Hospital, Birmingham, UK.

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http://dx.doi.org/10.1136/bcr-2017-222307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613960PMC
July 2019

Challenges in diagnosing and managing adult patients with urea cycle disorders.

J Inherit Metab Dis 2019 11 8;42(6):1136-1146. Epub 2019 May 8.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/jimd.12096DOI Listing
November 2019

Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.

BMC Endocr Disord 2018 Nov 26;18(1):88. Epub 2018 Nov 26.

Centre for Rare Disease, Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, B15 2TH, UK.

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https://bmcendocrdisord.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s12902-018-0315-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258144PMC
November 2018

Language processing and executive functions in early treated adults with phenylketonuria (PKU).

Cogn Neuropsychol 2018 May - Jun;35(3-4):148-170. Epub 2018 Feb 28.

a School of Life and Health Sciences , Aston University , Birmingham , UK.

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http://dx.doi.org/10.1080/02643294.2017.1422709DOI Listing
March 2019

Globotriaosylsphingosine (Lyso-Gb) as a biomarker for cardiac variant (N215S) Fabry disease.

J Inherit Metab Dis 2018 03 2;41(2):239-247. Epub 2018 Jan 2.

University Hospitals of Birmingham NHS Foundation Trust, B15 2TH, Birmingham, UK.

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http://doi.wiley.com/10.1007/s10545-017-0127-2
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http://dx.doi.org/10.1007/s10545-017-0127-2DOI Listing
March 2018

Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.

Europace 2018 09;20(FI2):f153-f161

Department of Cardiology, First Floor, Nuffield House, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1093/europace/eux261DOI Listing
September 2018

Extreme bony pelvic deformity in a renal transplant patient.

BMJ Case Rep 2017 Sep 23;2017. Epub 2017 Sep 23.

Department of Endocrinology, University Hospital of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/bcr-2017-220729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747642PMC
September 2017

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Mol Genet Genomic Med 2017 Jul 15;5(4):390-404. Epub 2017 May 15.

Wellcome Trust-MRC Institute of Metabolic ScienceUniversity of CambridgeCambridgeUK.

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http://dx.doi.org/10.1002/mgg3.296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511801PMC
July 2017

Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient.

BMJ Case Rep 2017 Jan 30;2017. Epub 2017 Jan 30.

Department of Endocrinology, University Hospital of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/bcr-2016-217477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293959PMC
January 2017

Successful treatment of recurrent renal stones with Cinacalcet in a patient with primary hyperparathyroidism.

BMJ Case Rep 2016 Aug 12;2016. Epub 2016 Aug 12.

Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK.

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http://dx.doi.org/10.1136/bcr-2016-216311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986140PMC
August 2016

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.

J Am Soc Mass Spectrom 2016 Apr 21;27(4):719-25. Epub 2016 Jan 21.

Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, England.

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http://dx.doi.org/10.1007/s13361-015-1318-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792351PMC
April 2016

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Hum Mutat 2016 Feb 1;37(2):139-47. Epub 2015 Dec 1.

Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1002/humu.22923DOI Listing
February 2016

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.

J Clin Endocrinol Metab 2015 Aug 11;100(8):E1116-24. Epub 2015 Jun 11.

Diabetes Research Unit (R.B.P., J.S., C.C., S.B.), Horizon Centre, Torbay Hospital NHS Foundation Trust, Lawes Bridge, Torquay, Devon TQ2 7AA, United Kingdom; School of Clinical and Experimental Medicine (T.B.), College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; Leeds Children's Hospital (F.C.), Leeds, West Yorkshire LS1 3EX, United Kingdom; Internal Medicine 3 (P.M.), Department of Medicine, University Hospital of Padua, 35122 Padua, Italy; The Jackson Laboratory (J.D.M.), Bar Harbor, Maine 04609; University of Nottingham Medical School (C.P.), Nottingham NG7 2UH, United Kingdom; and Department of Cardiology (R.P.S., N.C.E.), and Department of Endocrinology (T.G.), University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Queen Elizabeth Medical Centre, Birmingham B15 2TH, 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.2015-1577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525001PMC
August 2015

Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiency.

JIMD Rep 2014 5;16:47-50. Epub 2014 Jul 5.

Department of Endocrinology and Metabolism, University Hospital Birmingham, Edgbaston, Birmingham, B15-2TH, UK,

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http://dx.doi.org/10.1007/8904_2014_318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221297PMC
November 2014

Treatment of infertility in the polycystic ovary syndrome.

N Engl J Med 2007 May;356(19):2000; author reply 1999-2001

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May 2007

Case 36-2005: a woman with seizure, disturbed gait, and altered mental status.

N Engl J Med 2006 Mar;354(10):1096-7; author reply 1096-7

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http://dx.doi.org/10.1056/NEJMc053506DOI Listing
March 2006

HbA1c predicts the likelihood of having impaired glucose tolerance in high-risk patients with normal fasting plasma glucose.

Ann Clin Biochem 2005 May;42(Pt 3):193-5

Department of Clinical Biochemistry, Russells Hall Hospital, Dudley, West Midlands DY1 2HQ, UK.

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http://dx.doi.org/10.1258/0004563053857950DOI Listing
May 2005