Tarekegn Geberhiwot: search on Z-Library

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1

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

Zampieri, Stefania, Filocamo, Mirella, Pianta, Annalisa, Lualdi, Susanna, Gort, Laura, Coll, Maria Jose, Sinnott, Richard, Geberhiwot, Tarekegn, Bembi, Bruno, Dardis, Andrea

Journal:

Year:

2016

Language:

english

File:

PDF, 516 KB

english, 2016

2

Very high bone mineral density in a monogenic form of obesity-associated insulin resistance

Tahani, Natascia, Choudhary, Surabhi, Boivin, Chris, Dawson, Charlotte, Gittoes, Neil, Geberhiwot, Tarekegn

Journal:

Year:

2020

File:

PDF, 1.52 MB

2020

3

Consensus clinical management guidelines for Niemann-Pick disease type C

Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, S

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 917 KB

english, 2018

4

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Biegstraaten, Marieke, Arngrímsson, Reynir, Barbey, Frederic, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hughes,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 429 KB

english, 2015

5

Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature

Schoser, Benedikt, Fong, Edward, Geberhiwot, Tarekegn, Hughes, Derralynn, Kissel, John T., Madathil, Shyam C., Orlikowski, David, Polkey, Michael I., Roberts, Mark, Tiddens, Harm A. W. M., Young, Pete

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 449 KB

english, 2017

6

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

Palermo, Liana, MacDonald, Anita, Limback, Ellie, Robertson, Louise, Howe, Sarah, Geberhiwot, Tarekegn, Romani, Cristina

Journal:

Journal of Clinical and Experimental Neuropsychology

Year:

2019

File:

PDF, 1.59 MB

2019

7

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Byrne, Barry J., Geberhiwot, Tarekegn, Barshop, Bruce A., Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reil

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 544 KB

english, 2017

8

Prospective cardiovascular magnetic resonance imaging in adults with AlstrÃ¶m syndrome: silent progression of diffuse interstitial fibrosis

Baig, Shanat, Dowd, Rory, Edwards, Nicola C., Hodson, James, Fabritz, Larissa, Vijapurapu, Ravi, Liu, Boyang, Geberhiwot, Tarekegn, Steeds, Richard P.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.24 MB

2020

9

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Van Groenendael, Stephanie, Giacovazzi, Luca, Davison, Fabian, Holtkemper, Oliver, Huang, Zexin, Wang, Qiaoying, Parkinson, Kay, Barrett, Timothy, Geberhiwot, Tarekegn

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 724 KB

english, 2015

10

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

Woods, Emily, Dawson, Charlotte, Senthil, Latha, Geberhiwot, Tarekegn

Journal:

BMJ Case Reports

Year:

2017

File:

PDF, 296 KB

2017

11

Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Edwards, Nicola C., Moody, William E., Yuan, Mengshi, Warfield, Adrian T., Cramb, Robert, Paisey, Richard B., Geberhiwot, Tarekegn, Steeds, Richard P.

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 2.14 MB

english, 2015

12

Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy

Vijapurapu, Ravi, Geberhiwot, Tarekegn, Jovanovic, Ana, Baig, Shanat, Nordin, Sabrina, Kozor, Rebecca, Leyva, Francisco, Kotecha, Dipak, Wheeldon, Nigel, Deegan, Patrick, Rusk, Rosemary A, Moon, James

Journal:

Year:

2019

File:

PDF, 471 KB

2019

13

The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.

Romani, Cristina, Palermo, Liana, MacDonald, Anita, Limback, Ellie, Hall, S. Kate, Geberhiwot, Tarekegn

Journal:

Neuropsychology

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

14

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

De Felice, Sara, Romani, Cristina, Geberhiwot, Tarekegn, MacDonald, Anita, Palermo, Liana

Journal:

Cognitive Neuropsychology

Year:

2018

Language:

english

File:

PDF, 2.07 MB

english, 2018

15

Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.

Palermo, Liana, Geberhiwot, Tarekegn, MacDonald, Anita, Limback, Ellie, Hall, S. Kate, Romani, Cristina

Journal:

Neuropsychology

Year:

2017

Language:

english

File:

PDF, 697 KB

english, 2017

16

Blood Platelets Contain and Secrete Laminin-8 (α4β1γ1) and Adhere to Laminin-8 via α6β1 Integrin

Tarekegn Geberhiwot, Sulev Ingerpuu, Claudio Pedraza, Mauricio Neira, Ulla Lehto, Ismo Virtanen, Jarkko Kortesmaa, Karl Tryggvason, Eva Engvall, Manuel Patarroyo

Journal:

Experimental Cell Research

Year:

1999

Language:

english

File:

PDF, 193 KB

english, 1999

17

Erythromegakaryocytic Cells Synthesize Laminin-8 (α4β1γ1)

Tarekegn Geberhiwot, Sulev Ingerpuu, Claudio Pedraza, Mauricio Neira, Ismo Virtanen, Karl Tryggvason, Manuel Patarroyo

Journal:

Experimental Cell Research

Year:

2000

Language:

english

File:

PDF, 152 KB

english, 2000

18

Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears

Toomas Kivisild, Maere Reidla, Ene Metspalu, Alexandra Rosa, Antonio Brehm, Erwan Pennarun, Jüri Parik, Tarekegn Geberhiwot, Esien Usanga, Richard Villems

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 812 KB

english, 2004

19

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease

Alharbi, Fahad J., Baig, Shanat, Auray-Blais, Christiane, Boutin, Michel, Ward, Douglas G., Wheeldon, Nigel, Steed, Rick, Dawson, Charlotte, Hughes, Derralynn, Geberhiwot, Tarekegn

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 885 KB

english, 2018

20

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

Nordin, Sabrina, Kozor, Rebecca, Vijapurapu, Ravi, Augusto, João B., Knott, Kristopher D., Captur, Gabriella, Treibel, Thomas A., Ramaswami, Uma, Tchan, Michel, Geberhiwot, Tarekegn, Steeds, Richard P

Journal:

Circulation Cardiovascular Imaging

Year:

2019

File:

PDF, 386 KB

2019

21

Prolonged Confusional state as first manifestation of COVIDâ19

Butt, Isabel, Sawlani, Vijay, Geberhiwot, Tarekegn

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 6.86 MB

2020

22

Impact of two-year elosulfase alfa treatment on patient-reported outcomes in patients with Morquio syndrome type A: Results from an English managed access agreement

Adam, Jacqueline, Cleary, Maureen, Hendriksz, Christian, Geberhiwot, Tarekegn, Hughes, Derralynn, Jones, Simon A., Jovanovic, Ana, Morrison, Alexandra, Murphy, Elaine, Vijay, Suresh

Journal:

Molecular Genetics and Metabolism

Year:

2019

File:

PDF, 46 KB

2019

23

Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England

Hughes, Derralynn, Cleary, Maureen, Geberhiwot, Tarekegn, Hendriksz, Christian J., Jones, Simon A., Jovanovic, Ana, Lavery, Christine, Murphy, Elaine, Vijay, Suresh

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

24

Chain specificity assignment of monoclonal antibodies to human laminins by using recombinant laminin β1 and γ1 chains

Tarekegn Geberhiwot, Zenebech Wondimu, Sirpa Salo, Timo Pikkarainen, Jarkko Kortesmaa, Karl Tryggvason, Ismo Virtanen, Manuel Patarroyo

Journal:

Year:

2000

Language:

english

File:

PDF, 219 KB

english, 2000

25

135 Detecting Progression of Diffuse Interstitial Fibrosis in Alstrom Syndrome: Abstract 135 Table 1

Baig, Shanat, Edwards, Nicola, Liu, Boyang, Hayer, Manvir, Dawson, Charlotte, Geberhiwot, Tarekegn, Steeds, Richard

Journal:

Year:

2016

Language:

english

File:

PDF, 294 KB

english, 2016

26

Cardiac Phenotype of Prehypertrophic Fabry Disease

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Abdel-Gadir, Amna, Medina-Menacho, Katia, Rosmini, Stefania, Captur, Gabriella, Tchan, Michel, Geberhiwot, Tarekegn, Murphy, Elaine, Lachmann, Robin, Ram

Journal:

Circulation Cardiovascular Imaging

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

27

[BMJ Publishing Group Ltd and British Cardiovascular Society British Cardiovascular Society Annual Conference âHigh Performing Teamsâ, 4â6 June 2018, Manchester, UK - ()] Imaging - 54âCharacterisation of systolic myocardial strain in patients with fabry disease

Vijapurapu, Ravi, Nordin, Sabrina, Baig, Shanat, Liu, Boyang, Kozor, Rebecca, Hughes, Derralynn, Moon, James, Geberhiwot, Tarekegn, Steeds, Richard

Year:

2018

File:

PDF, 138 KB

2018

28

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

Geberhiwot, Tarekegn, Haddon, Angela, Labib, Mourad

Journal:

Annals of Clinical Biochemistry

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

29

The subclinical phenotype of cardiac Fabry disease

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Tchan, Michel, Geberhiwot, Tarekegn, Murphy, Elaine, Lachmann, Robin H., Mehta, Atul, Edwards, Nicola C., Ramaswami, Uma, Steeds, Richard P., Hughes, Der

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

30

Impact of two-year elosulfase alfa treatment on patient-reported outcomes in patients with Morquio syndrome type A: Results from an English managed access agreement

Adam, Jacqueline, Cleary, Maureen, Hendriksz, Christian, Geberhiwot, Tarekegn, Hughes, Derralynn, Jones, Simon A., Jovanovic, Ana, Morrison, Alexandra, Murphy, Elaine, Vijay, Suresh

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 46 KB

english, 2019

31

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

Alharbi, Fahad J., Geberhiwot, Tarekegn, Hughes, Derralynn A., Ward, Douglas G.

Journal:

Journal of the American Society for Mass Spectrometry

Year:

2016

Language:

english

File:

PDF, 873 KB

english, 2016

32

P0062GLUCOSYLCERAMIDE SYNTHASE INHIBITION WITH VENGLUSTAT IN CLASSIC FABRY DISEASE PATIENTS LEADS TO PROGRESSIVE REDUCTION OF ENDOTHELIAL CELL GLOBOTRIAOSYLCERAMIDE INCLUSION VOLUME

Mauer, Michael, Goker-Alpan, Ozlem, Germain, Dominique P, Wilcox, William, Hopkin, Robert J, Lukina, Elena, Geberhiwot, Tarekegn, Deegan, Patrick, Tylki-Szymanska, Anna, Sensinger, Charlotte, Zaher, A

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 107 KB

2020

33

Laboratory-based Calculation of Coronary Heart Disease Risk

Geberhiwot, Tarekegn, Jones, Alan F, Bartlett, William A, Husband, David, Martin, Steven C

Journal:

Clinical Chemistry

Year:

2001

File:

PDF, 167 KB

2001

34

Ectoprotein kinase activities on non-differentiated and differentiated U-937 cells

Tarekegn Geberhiwot, Göran Skoglund

Journal:

Cellular Signalling

Year:

1995

Language:

english

File:

PDF, 530 KB

english, 1995

35

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

Chen, Jian-Hua, Geberhiwot, Tarekegn, Barrett, Timothy G., Paisey, Richard, Semple, Robert K.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 2.67 MB

english, 2017

36

POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: Initial experience in 22 patients

Byrne, Barry, Barohn, Richard, Barshop, Bruce, Bratkovic, Drago, Desnuelle, Claude, Geberhiwot, Tarekegn, Hughes, Derralynn, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Lang, William, LeBowitz, Jon

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

37

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

Baig, Shanat, Veeranna, Vishy, Bolton, Shaun, Edwards, Nicola, Tomlinson, Jeremy W., Manolopoulos, Konstantinos, Moran, John, Steeds, Richard P., Geberhiwot, Tarekegn

Journal:

BMC Endocrine Disorders

Year:

2018

Language:

english

File:

PDF, 1.33 MB

english, 2018

38

Long-term clinical outcomes of patients with Morquio syndrome type A treated with elosulfase alfa: Results from a managed access agreement in England

Mukherjee, Swati, Davison, James, Gould, Rachel, Geberhiwot, Tarekegn, Hughes, Derralynn, Jones, Simon A., Santra, Saikat, Stepien, Karolina M., Cleary, Maureen

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 326 KB

2020

39

Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: An open-label, phase 2 study

Harmatz, Paul R., Jester, Andrea, Mengel, Eugen, Treadwell, Marsha, Burton, Barbara K., Berger, Kenneth I., Hendriksz, Christian J., Geberhiwot, Tarekegn, Sisic, Zlatko, Decker, Celeste

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

40

Audit on cardiovascular risk in Fabry disease

Ochoa-Ferraro, Antonio F., Bolton, Shaun, Geberhiwot, Tarekegn, Dawson, Charlotte

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 319 KB

2020

41

Clinical utility of total concentration of globotriaosylsphingosine (Lyso-Gb) and its analogues in diagnosing Fabry disease

Alharbi, Fahad J., Baig, Shanat, Geberhiwot, Tarekegn

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 321 KB

2020

42

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

Baig, Shanat, Edward, Nicky C, Kotecha, Dipak, Liu, Boyang, Nordin, Sabrina, Kozor, Rebecca, Moon, James C., Geberhiwot, Tarekegn, Steeds, Richard P

Journal:

Year:

2017

Language:

english

File:

PDF, 295 KB

english, 2017

43

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease

Vijapurapu, Ravi, Nordin, Sabrina, Baig, Shanat, Liu, Boyang, Rosmini, Stefania, Augusto, Joao, Tchan, Michel, Hughes, Derralynn A, Geberhiwot, Tarekegn, Moon, James C, Steeds, Richard Paul, Kozor, Re

Journal:

Year:

2018

Language:

english

File:

PDF, 877 KB

english, 2018

44

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

Dunne, Thomas Frederick, Geberhiwot, Tarekegn, Jones, Rowena

Journal:

BMJ Case Reports

Year:

2019

Language:

english

File:

PDF, 142 KB

english, 2019

45

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Harmatz, Paul R., Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J., Burton, Barbara K., Jameson, Elisabeth, Berger, Kenneth I., Jester, Andrea, Treadwell, Marsha, Sisic, Z

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 538 KB

english, 2017

46

Challenges in diagnosing and managing adult patients with Urea Cycle Disorders

Stepien, Karolina M, Geberhiwot, Tarekegn, Hendriksz, Christian J., Treacy, Eileen P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

47

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

Alharbi, Fahad J., Baig, Shanat, Rambhatla, Srinivasa B., Vijapurapu, Ravi, Auray-Blais, Christiane, Boutin, Michel, Steeds, Richard, Wheeldon, Nigel, Dawson, Charlotte, Geberhiwot, Tarekegn

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 1.39 MB

english, 2019

48

Cell surface and serum protein phosphorylation by U-937 cell ectoprotein kinases

Tarekegn Geberhiwot, Göran Skoglund

Journal:

Year:

1997

Language:

english

File:

PDF, 513 KB

english, 1997

49

Severe neurological crisis in adult patients with Tyrosinemia type 1

Dawson, Charlotte, Ramachandran, Radha, Safdar, Samreen, Murphy, Elaine, Swayne, Orlando, Katz, Jonathan, Newsome, Philip N., Geberhiwot, Tarekegn

Journal:

Annals of Clinical and Translational Neurology

Year:

2020

File:

PDF, 142 KB

2020

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