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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:

Année:

2016

Langue:

english

Fichier:

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:

Année:

2020

Fichier:

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

Année:

2018

Langue:

english

Fichier:

PDF, 917 KB

english, 2018

4

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

Année:

2004

Langue:

english

Fichier:

PDF, 812 KB

english, 2004

5

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

Année:

2015

Langue:

english

Fichier:

PDF, 429 KB

english, 2015

6

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

Année:

2015

Langue:

english

Fichier:

PDF, 724 KB

english, 2015

7

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

Année:

2015

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2015

8

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

Année:

2017

Langue:

english

Fichier:

PDF, 449 KB

english, 2017

9

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

Année:

2017

Langue:

english

Fichier:

PDF, 544 KB

english, 2017

10

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

Année:

2019

Fichier:

PDF, 1.59 MB

2019

11

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

Année:

2020

Fichier:

PDF, 1.24 MB

2020

12

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

Année:

2017

Fichier:

PDF, 296 KB

2017

13

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

Tarekegn Geberhiwot, Göran Skoglund

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 513 KB

english, 1997

14

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

Tarekegn Geberhiwot, Göran Skoglund

Journal:

Cellular Signalling

Année:

1995

Langue:

english

Fichier:

PDF, 530 KB

english, 1995

15

Erythromegakaryocytic Cells Synthesize Laminin-8 (α4β1γ1)

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

Journal:

Experimental Cell Research

Année:

2000

Langue:

english

Fichier:

PDF, 152 KB

english, 2000

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

Année:

1999

Langue:

english

Fichier:

PDF, 193 KB

english, 1999

17

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:

Année:

2000

Langue:

english

Fichier:

PDF, 219 KB

english, 2000

18

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

Année:

2013

Langue:

english

Fichier:

PDF, 62 KB

english, 2013

19

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

Année:

2005

Langue:

english

Fichier:

PDF, 70 KB

english, 2005

20

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

Année:

2016

Langue:

english

Fichier:

PDF, 52 KB

english, 2016

21

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

Année:

2016

Langue:

english

Fichier:

PDF, 873 KB

english, 2016

22

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

Année:

2017

Langue:

english

Fichier:

PDF, 538 KB

english, 2017

23

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

Année:

2017

Langue:

english

Fichier:

PDF, 697 KB

english, 2017

24

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

Année:

2017

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2017

25

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

Année:

2017

Langue:

english

Fichier:

PDF, 2.67 MB

english, 2017

26

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:

Année:

2017

Langue:

english

Fichier:

PDF, 295 KB

english, 2017

27

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

Année:

2018

Langue:

english

Fichier:

PDF, 885 KB

english, 2018

28

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

Année:

2018

Langue:

english

Fichier:

PDF, 52 KB

english, 2018

29

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

Année:

2018

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2018

30

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:

Année:

2016

Langue:

english

Fichier:

PDF, 294 KB

english, 2016

31

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2018

32

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

Année:

2018

Langue:

english

Fichier:

PDF, 52 KB

english, 2018

33

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:

Année:

2018

Langue:

english

Fichier:

PDF, 877 KB

english, 2018

34

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2018

35

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

Année:

2019

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2019

36

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

Année:

2019

Langue:

english

Fichier:

PDF, 46 KB

english, 2019

37

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

Année:

2019

Fichier:

PDF, 46 KB

2019

38

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

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

Journal:

BMJ Case Reports

Année:

2019

Langue:

english

Fichier:

PDF, 142 KB

english, 2019

39

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

Année:

2019

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2019

40

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

Année:

2019

Fichier:

PDF, 386 KB

2019

41

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:

Année:

2019

Fichier:

PDF, 471 KB

2019

42

Prolonged Confusional state as first manifestation of COVIDâ19

Butt, Isabel, Sawlani, Vijay, Geberhiwot, Tarekegn

Journal:

Annals of Clinical and Translational Neurology

Année:

2020

Fichier:

PDF, 6.86 MB

2020

43

Audit on cardiovascular risk in Fabry disease

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

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 319 KB

2020

44

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

Année:

2020

Fichier:

PDF, 321 KB

2020

45

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

Année:

2020

Fichier:

PDF, 326 KB

2020

46

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

Année:

2020

Fichier:

PDF, 142 KB

2020

47

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

Année:

2020

Fichier:

PDF, 107 KB

2020

48

Laboratory-based Calculation of Coronary Heart Disease Risk

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

Journal:

Clinical Chemistry

Année:

2001

Fichier:

PDF, 167 KB

2001

49

[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

Année:

2018

Fichier:

PDF, 138 KB

2018