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Anne‐Marie Lamhonwah

Observed names: Anne Marie Lamhonwah, Anne-Marie LamHonWah, Anne-Marie Lamhonwah
Observed institutions: University of Toronto, Montreal Children's Hospital, Great Ormond Street Hospital, Hospital for Sick Children, Sickkids Research Institute, McGill University
OpenAlex ID: A5113847434
NovelOCTN2mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
2002 · Anne‐Marie Lamhonwah, Simon E. Olpin, et al. · American Journal of Medical Genetics · 121
Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exercise
2010 · Anne‐Marie Lamhonwah, Christine E. Bear, et al. · Annals of Neurology · 116
Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria
2006 · Anne-Marie Lamhonwah, Ingrid Tein · Biochemical and Biophysical Research Communications · 109
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn’s disease locus (IBD5)
2003 · Anne-Marie Lamhonwah, Jennifer Skaug, et al. · Biochemical and Biophysical Research Communications · 70
OCTN3 is a mammalian peroxisomal membrane carnitine transporter
2005 · Anne-Marie Lamhonwah, Cameron A. Ackerley, et al. · Biochemical and Biophysical Research Communications · 65
Carnitine Uptake Defect: Frameshift Mutations in the Human Plasmalemmal Carnitine Transporter Gene
1998 · Anne-Marie Lamhonwah, Ingrid Tein · Biochemical and Biophysical Research Communications · 63
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
2007 · Ingrid Tein, Orly Elpeleg, et al. · Molecular Genetics and Metabolism · 62
Expression patterns of the organic cation/carnitine transporter family in adult murine brain
2007 · Anne Marie Lamhonwah, Cynthia E. Hawkins, et al. · Brain and Development · 62
Characterization of organic cation/carnitine transporter family in human sperm
2003 · Wanli Xuan, Anne-Marie Lamhonwah, et al. · Biochemical and Biophysical Research Communications · 51
Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants
2011 · Zarazuela Zolkipli, Christina B. Pedersen, et al. · PLoS ONE · 35
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Sequence homology around the biotin-binding site of human propionyl-CoA carboxylase and pyruvate carboxylase
1987 · Anne-Marie Lamhonwah, Frank Quan, et al. · Archives of Biochemistry and Biophysics · 35
Isolation and expression of a full-length cDNA encoding the human GM2 activator protein
1991 · Bei Xie, Beth McInnes, et al. · Biochemical and Biophysical Research Communications · 31
Two distinct mutations at the same site in the PCCB gene in propionic acidemia
1990 · Anne-Marie Lamhonwah, Charles E. Troxel, et al. · Genomics · 27
Isolation and expression in Escherichia coli of a cDNA clone encoding human β-glucuronidase
1985 · Kevin S. Guise, Robert G. Korneluka, et al. · Gene · 27
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
2005 · Anne-Marie Lamhonwah, Cameron Ackerley, et al. · Biochemical and Biophysical Research Communications · 25
Upregulation of mammary gland OCTNs maintains carnitine homeostasis in suckling infants
2010 · Anne-Marie Lamhonwah, Lydia Mai, et al. · Biochemical and Biophysical Research Communications · 24
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
1994 · Anne-Marie Lamhonwah, Daniel Leclerc, et al. · Genomics · 24
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
1999 · Anne-Marie Lamhonwah, Ingrid Tein · Biochemical and Biophysical Research Communications · 23
Structural Organization, Sequence, and Expression of the Mouse HEXA Gene Encoding the α Subunit of Hexosaminidase A
1994 · Nobuaki Wakamatsu, Guylaine Benoit, et al. · Genomics · 20
Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature α chains in the deduced primary sequence of a full-length cDNA
1989 · Anne-Marie Lamhonwah, Don Mahuran, et al. · Nucleic Acids Research · 19
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Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening
2019 · Kate C. Verbeeten, Anne-Marie Lamhonwah, et al. · Molecular Genetics and Metabolism · 13
Organic cation/carnitine transporter family expression patterns in adult murine heart
2009 · Anne Marie Lamhonwah, Jeannie Wong, et al. · Pathology - Research and Practice · 13
NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders
2016 · Ilona Tkachyova, Xiaolian Fan, et al. · PLoS ONE · 8
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Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis
2020 · Anne-Marie Lamhonwah, Ingrid Tein · Clinica Chimica Acta · 7
Attention deficit/hyperactivity disorder as an associated feature in OCTN2 deficiency with novel deletion (p.T440‐Y449)
2018 · Anne‐Marie Lamhonwah, Ivo Barić, et al. · Clinical Case Reports · 6
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Works count: 30
Citation count: 1,061
H-index: 19
I10-index: 22
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