P284 – 1564 Children with neurological disorders – when should we look for a neurometabolic disease?
Cvitanovic-Sojat, L, Malenica, M, Kukuruzovic, M, Zigman, T, Kuznik, K, Tein, I, Seneca, S, Lissens, W, Van Coster, R, Lamhonwah, AM, De Meirleir, L
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
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Journal Article
Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn’s disease at 5q31
Lamhonwah, Anne-Marie, Ackerley, Cameron, Onizuka, Russell, Tilups, Aina, Lamhonwah, Daniel, Chung, Cilla, Tao, Ke Sheng, Tellier, Raymond, Tein, Ingrid
Published in Biochemical and biophysical research communications (02.12.2005)
Published in Biochemical and biophysical research communications (02.12.2005)
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Journal Article
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy
Lamhonwah, Anne-Marie, Olpin, Simon E, Pollitt, Rodney J, Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T N, Onizuka, Russell, De Meirleir, Linda J, Cvitanovic-Sojat, Ljerka, Baric, Ivo, Dionisi-Vici, Carlo, Fumic, Ksenija, Maradin, Miljenka, Tein, Ingrid
Published in American journal of medical genetics (15.08.2002)
Published in American journal of medical genetics (15.08.2002)
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Journal Article
GFP–Human High-Affinity Carnitine Transporter OCTN2 Protein: Subcellular Localization and Functional Restoration of Carnitine Uptake in Mutant Cell Lines with the Carnitine Transporter Defect
Lamhonwah, Anne-Marie, Tein, Ingrid
Published in Biochemical and biophysical research communications (02.11.1999)
Published in Biochemical and biophysical research communications (02.11.1999)
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Journal Article
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
Kolluri, R, Shehabeldin, A, Peacocke, M, Lamhonwah, A M, Teichert-Kuliszewska, K, Weissman, S M, Siminovitch, K A
Published in Human molecular genetics (01.07.1995)
Published in Human molecular genetics (01.07.1995)
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Journal Article
Involvement of the SHP-1 tyrosine phosphatase in regulating B lymphocyte antigen receptor signaling, proliferation and transformation
Siminovitch, K A, Lamhonwah, A M, Somani, A K, Cardiff, R, Mills, G B
Published in Current topics in microbiology and immunology (1999)
Published in Current topics in microbiology and immunology (1999)
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Journal Article
Mutations participating in interallelic complementation in propionic acidemia
GRAVEL, R. A, AKERMAN, B. R, LAMHONWAH, A.-M, LOYER, M, LEON-DEL-RIO, A, ITALIANO, I
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
Journal Article
Identification of an altered splice site in Ashkenazi Tay-Sachs disease
Arpaia, E, Dumbrille-Ross, A, Maler, T, Neote, K, Tropak, M, Troxel, C, Stirling, J L, Pitts, J S, Bapat, B, Lamhonwah, A M
Published in Nature (London) (05.05.1988)
Published in Nature (London) (05.05.1988)
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Journal Article
Correction of the Metabolic Defect in Propionic Acidemia Fibroblasts by Microinjection of a Full-Length cDNA or RNA Transcript Encoding the Propionyl-CoA Carboxylase β Subunit
Lamhonwah, Anne-Marie, Leclerc, Daniel, Loyer, Magali, Clarizio, Rino, Gravel, Roy A.
Published in Genomics (San Diego, Calif.) (01.02.1994)
Published in Genomics (San Diego, Calif.) (01.02.1994)
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Journal Article
Isolation and expression of a full-length cDNA encoding the human GM2 activator protein
BEI XIE, MCINNES, B, NEOTE, K, LAMHONWAH, A.-M, MAHURAN, D
Published in Biochemical and biophysical research communications (28.06.1991)
Published in Biochemical and biophysical research communications (28.06.1991)
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Journal Article
Structural Organization, Sequence, and Expression of the Mouse HEXA Gene Encoding the α Subunit of Hexosaminidase A
Wakamatsu, Nobuaki, Benoit, Guylaine, Lamhonwah, Anne-Marie, Zhang, Zhi-Xin, Trasler, Jacquetta M., Triggs-Raine, Barbara L., Gravel, Roy A.
Published in Genomics (San Diego, Calif.) (01.11.1994)
Published in Genomics (San Diego, Calif.) (01.11.1994)
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Journal Article
Isolation of cDNA Clones Coding for the β Subunit of Human β -hexosaminidase
O'Dowd, Brian F., Quan, Frank, Willard, Huntington F., Lamhonwah, Anne-Marie, Korneluk, Robert G., Lowden, J. Alexander, Gravel, Roy A., Mahuran, Don J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1985)
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1985)
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