Novel mutation in GLRB in a large family with hereditary hyperekplexia
Al-Owain, M, Colak, D, Al-Bakheet, A, Al-Hashmi, N, Shuaib, T, Al-Hemidan, A, Aldhalaan, H, Rahbeeni, Z, Al-Sayed, M, Al-Younes, B, Ozand, PT, Kaya, N
Published in Clinical genetics (01.05.2012)
Published in Clinical genetics (01.05.2012)
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Journal Article
Biotin-responsive basal ganglia disease : a novel entity
OZAND, P. T, GASCON, G. G, AL ESSA, M, JOSHI, S, AL JISHI, E, BAKHEET, S, AL WATBAN, J, ZUHEIR AL-KAWI, M, DABBAGH, O
Published in Brain (London, England : 1878) (01.07.1998)
Published in Brain (London, England : 1878) (01.07.1998)
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Journal Article
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
Rashed, Mohamed S, Bucknall, Martin P, Little, Douglas, Awad, Amin, Jacob, Minnie, Alamoudi, Mohamed, Alwattar, Mona, Ozand, Pinar T
Published in Clinical chemistry (Baltimore, Md.) (01.07.1997)
Published in Clinical chemistry (Baltimore, Md.) (01.07.1997)
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Journal Article
Conference Proceeding
Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3
Zeng, Wen-Qi, Al-Yamani, Eiman, Acierno, James S., Slaugenhaupt, Susan, Gillis, Tammy, MacDonald, Marcy E., Ozand, Pinar T., Gusella, James F.
Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Journal Article
Application of electrospray tandem mass spectrometry to neonatal screening
Rashed, Mohamed S., Rahbeeni, Zuhair, Ozand, Pinar T.
Published in Seminars in perinatology (01.04.1999)
Published in Seminars in perinatology (01.04.1999)
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Journal Article
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis
Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.
Published in Human mutation (01.10.2004)
Published in Human mutation (01.10.2004)
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Journal Article
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia
Pomponio, R. J., Ozand, P. T., Al Essa, M., Wolf, B.
Published in Journal of inherited metabolic disease (01.03.2000)
Published in Journal of inherited metabolic disease (01.03.2000)
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Journal Article
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant
SCHEPERS, U, GLOMBITZA, G, LEMM, T, HOFFMANN, A, CHABAS, A, OZAND, P, SANDHOFF, K
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
Journal Article
Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis
Georgiou, T., Drousiotou, A., Campos, Y., Caciotti, A., Sztriha, L., Gururaj, A., Ozand, P., Zammarchi, E., Morrone, A., D'Azzo, A.
Published in Human mutation (01.12.2004)
Published in Human mutation (01.12.2004)
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Journal Article
HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q
Mitchell, Grant A., Ozand, Pinar T., Robert, Marie-France, Ashmarina, Lyudmila, Roberts, Jacqueline, Gibson, K. Michael, Wanders, Ronald J., Wang, Shupei, Chevalier, Isabelle, Plöchl, E., Miziorko, Henry
Published in American journal of human genetics (01.02.1998)
Published in American journal of human genetics (01.02.1998)
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Journal Article
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A
Published in Human genetics (01.05.2005)
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Published in Human genetics (01.05.2005)
Journal Article
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile
Drousiotou, A, Georgiou, T, Drousiotou, A, Campos, Y, Caciotti, A, Sztriha, L, Gururaj, A, Ozand, P, Zammarchi, E, Morrone, A, d Azzo, A
Published in Human genetics (01.05.2005)
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Published in Human genetics (01.05.2005)
Journal Article
Unusual presentations of propionic acidemia
Ozand, P.T., Rashed, M., Gascon, G.G., Youssef, N.G., Harfi, H., Rahbeeni, Z., Al Garawi, S., Al Aqeel, A.
Published in Brain & development (Tokyo. 1979) (01.11.1994)
Published in Brain & development (Tokyo. 1979) (01.11.1994)
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