Publications for Kevin Carpenter
Publications for Kevin Carpenter
2014
Henstridge, D., Bruce, C., Drew, B., Tory, K.,
Kolonics, A., Estevez, E., Chung, J., Watson, N.,
Gardner, T., Lee-Young, R., Carpenter, K., et al
(2014). Activating HSP72 in Rodent Skeletal
Muscle Increases Mitochondrial Number and
Oxidative Capacity and Decreases Insulin
Resistance. Diabetes, 63(6), 1881-1894. <a
href="http://dx.doi.org/10.2337/db13-0967">[M
ore Information]</a>
Estrella, J., Wilcken, B., Carpenter, K.,
Bhattacharya, K., Tchan, M., Wiley, V. (2014).
Expanded newborn screening in New South
Wales: missed cases. Journal of Inherited
Metabolic Disease (JIMD), 37(6), 881-887. <a
href="http://dx.doi.org/10.1007/s10545-014-972
7-2">[More Information]</a>
Samocha-Bonet, D., Chisholm, D., Gribble, F.,
Coster, A., Carpenter, K., Jones, G., Holst, J.,
Greenfield, J. (2014). Glycemic Effects and
Safety of L-Glutamine Supplementation with or
without Sitagliptin in Type 2 Diabetes Patients-A
Randomized Stud. PloS One, 9(11), 1-7. <a
href="http://dx.doi.org/10.1371/journal.pone.011
3366">[More Information]</a>
Foley, A., Menezes, M., Pandraud, A., Gonzalez,
M., Al-Odaib, A., Abrams, A., Sugano, K.,
Yonezawa, A., Manzur, A., Burns, J., Wang, M.,
Carpenter, K., Lek, M., Gold, W., Ouvrier, R.,
Christodoulou, J., et al (2014). Treatable
childhood neuronopathy caused by mutations in
riboflavin transporter RFVT2. Brain, 137(Pt 1),
44-56. <a
href="http://dx.doi.org/10.1093/brain/awt315">[
More Information]</a>
2013
Garg, P., Carpenter, K., Chong, S.,
Christodoulou, J. (2013). A Pilot Study of the
Effect of (E, E)-2, 4-Undecadienal on the
Offensive Odour of Trimethylamine. JIMD
Reports, 8, 11-15.
Garg, P., Carpenter, K., Chong, S.,
Christodoulou, J. (2013). A Pilot Study of the
Effect of (E, E)-2, 4-Undecadienal on the
Offensive Odour of Trimethylamine. In Garry
Brown, Eva Morava (Eds.), JIMD Reports Case
and Research Reports, 2012/5, (pp. 11-15).
Heidelberg: Springer.
Cunningham, S., Kok, C., Spinoulas, A.,
Carpenter, K., Alexander, I. (2013).
AAV-encoded OTC activity persisting to
adulthood following delivery to newborn spfash
mice is insufficient to prevent shRNA-induced
hyperammonaemia. Gene Therapy, 20(12),
1184-1187. <a
href="http://dx.doi.org/10.1038/gt.2013.51">[M
ore Information]</a>
Kok, C., Cunningham, S., Carpenter, K., Dane,
A., Siew, S., Logan, G., Kuchel, P., Alexander, I.
(2013). Adeno-associated Virus-mediated
Rescue of Neonatal Lethality in
Argininosuccinate Synthetase-deficient Mice.
Molecular Therapy, 21(10), 1823-1831. <a
href="http://dx.doi.org/10.1038/mt.2013.139">[
More Information]</a>
2012
Alodaib, A., Carpenter, K., Wiley, V., Wotton,
T., Christodoulou, J., Wilcken, B. (2012).
Homocysteine Measurement in Dried Blood Spot
for Neonatal Detection of Homocystinurias.
JIMD Reports, 5, 1-6.
Alodaib, A., Carpenter, K., Wiley, V., Wotton,
T., Christodoulou, J., Wilcken, B. (2012).
Homocysteine Measurement in Dried Blood Spot
for Neonatal Detection of Homocystinurias. In
Society for the Study of Inborn Errors of
Metabolism (Eds.), JIMD Reports - Case and
Research Reports, 2012/2, (pp. 1-6). Heidelberg:
Springer.
Patrinos, G., Smith, T., Howard, H., Al-Mulla,
F., Chouchane, L., Hadjisavvas, A., Hamed, S.,
Li, X., Mara�?e, M., Ramesar, R., Carpenter,
K., et al (2012). Human Variome Project
Country Nodes: Documenting Genetic
Information within a Country. Human Mutation,
33(11), 1513-1519. <a
href="http://dx.doi.org/10.1002/humu.22147">[
More Information]</a>
2011
Alodaib, A., Carpenter, K., Wiley, V., Sim, K.,
Christodoulou, J., Wilcken, B. (2011). An
improved ultra performance liquid
chromatography-tandem mass spectrometry
method for the determination of alloisoleucine
and branched chain amino acids in dried blood
samples. Annals of Clinical Biochemistry, 48(5),
468-470. <a
href="http://dx.doi.org/10.1258/acb.2011.010283
">[More Information]</a>
Cunningham, S., Kok, C., Dane, A., Carpenter,
K., Kizana, E., Kuchel, P., Alexander, I. (2011).
Induction and Prevention of Severe
Hyperammonemia in the spf(ash) Mouse Model
of Ornithine Transcarbamylase Deficiency Using
shRNA and rAAV-mediated Gene Delivery.
Molecular Therapy, 19(5), 854-859. <a
href="http://dx.doi.org/10.1038/mt.2011.32">[M
ore Information]</a>
Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim,
K., Carpenter, K., Olsen, R., Mitchell, J., Rhead,
W., Peters, G., Christodoulou, J. (2011).
Maternal Riboflavin Deficiency, Resulting in
Publications for Kevin Carpenter
Transient Neonatal-Onset Glutaric Aciduria
Type 2, Is Caused by a Microdeletion in the
Riboflavin Transporter Gene GPR172B. Human
Mutation, 32(1), E1976-E1984. <a
href="http://dx.doi.org/10.1002/humu.21399">[
More Information]</a>
2009
Cunningham, S., Spinoulas, A., Carpenter, K.,
Wilcken, B., Kuchel, P., Alexander, I. (2009).
AAV2/8-mediated Correction of OTC
Deficiency Is Robust in Adult but Not Neonatal
Spf(ash) Mice. Molecular Therapy, 17(8),
1340-1346. <a
href="http://dx.doi.org/10.1038/mt.2009.88">[M
ore Information]</a>
Shanti, B., Silink, M., Bhattacharya, K., Howard,
N., Carpenter, K., Fietz, M., Clayton, P.,
Christodoulou, J. (2009). Congenital disorder of
glycosylation type Ia: Heterogeneity in the
clinical presentation from multivisceral failure to
hyperinsulinaemic hypoglycaemia as leading
symptoms in three infants with
phosphomannomutase deficiency. Journal of
Inherited Metabolic Disease (JIMD), Short
Report #166 - online, 1-11. <a
href="http://dx.doi.org/10.1007/s10545-009-118
0-2">[More Information]</a>
Wilcken, B., Haas, M., Joy, P., Wiley, V.,
Bowling, F., Carpenter, K., Christodoulou, J.,
Cowley, D., Ellaway, C., Fletcher, J., et al
(2009). Expanded Newborn Screening: Outcome
in Screened and Unscreened Patients at Age 6
Years. Pediatrics (English Edition), 124(2),
e241-e248. <a
href="http://dx.doi.org/10.1542/peds.2008-0586"
>[More Information]</a>
Cunningham, S., Zoccai, G., Spinoulas, A.,
Carpenter, K., Alexander, I. (2009). In vivo
assessment of mutations in OTC for
dominant-negative effects following
rAAV2/8-mediated gene delivery to the mouse
liver. Gene Therapy, 16(6), 820-823. <a
href="http://dx.doi.org/10.1038/gt.2009.38">[M
ore Information]</a>
Bruce, C., Hoy, A., Turner, N., Watt, M., Allen,
T., Carpenter, K., Cooney, G., Febbraio, M.,
Kraegen, E. (2009). Overexpression of carnitine
palmitoyltransferase-1 in skeletal muscle is
sufficient to enhance fatty acid oxidation and
improve high-fat diet-induced insulin resistance.
Diabetes, 58(3), 550-558. <a
href="http://dx.doi.org/10.2337/db08-1078">[M
ore Information]</a>
2008
Bijarnia, S., Wiley, V., Carpenter, K.,
Christodoulou, J., Ellaway, C., Wilcken, B.
(2008). Glutaric aciduria type I: outcome
following detection by newborn screening.
Journal of Inherited Metabolic Disease (JIMD),
31(4), 503-507. <a
href="http://dx.doi.org/10.1007/s10545-008-091
2-z">[More Information]</a>
2007
Gunja, N., Doyle, E., Carpenter, K., Chan, O.,
Gilmore, S., Browne, G. (2007).
gamma-Hydroxybutyrate poisoning from toy
beads. Medical Journal of Australia, 188, 54-5.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18021061">[More Information]</a>
Chiong, M., Carpenter, K., Christodoulou, J.
(2007). Low citrulline may not be diagnostic of
ornithine transcarbamylase deficiency: a case
report. Journal of Inherited Metabolic Disease
(JIMD), 30(3), 405-405. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17407001">[More Information]</a>
Tan, E., Wiley, V., Carpenter, K., Wilcken, B.
(2007). Non-Ketotic Hyperglycinemia is usually
not detectable by tandem mass spectrometry
newborn screening. Molecular Genetics and
Metabolism, 90(4), 446-448. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17207649">[More Information]</a>
Chiong, M., Sim, K., Carpenter, K., Rhead, W.,
Ho, G., Olsen, R., Christodoulou, J. (2007).
Transient multiple acyl-CoA dehydrogenation
deficiency in a newborn female caused by
maternal riboflavin deficiency. Molecular
Genetics and Metabolism, 92(39479), 109-114.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17689999">[More Information]</a>
2006
Waddell, L., Wiley, V., Carpenter, K., Bennetts,
B., Angel, L., Andresen, B., Wilcken, B. (2006).
Medium-chain acyl-CoA dehydrogenase
deficiency: genotype-biochemical phenotype
correlations. Molecular Genetics and
Metabolism, 87(1), 32-39. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16291504">[More Information]</a>
Bhattacharya, K., Khalili, V., Wiley, V.,
Carpenter, K., Wilcken, B. (2006). Newborn
screening may fail to identify intermediate forms
of maple syrup urine disease. Journal of
Inherited Metabolic Disease (JIMD), 29(4),
586-586. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
Publications for Kevin Carpenter
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16830261">[More Information]</a>
2005
Maclean, K., Rasiah, V., Kirk, E., Carpenter, K.,
Cooper, S., Lui, K., Oei, J. (2005). Pulmonary
haemorrhage and cardiac dysfunction in a
neonate with medium-chain acyl-CoA
dehydrogenase (MCAD) deficiency. Acta
Paediatrica: Nurturing the Child, 94(1),
114-116. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15858970">[More Information]</a>
2003
Clarke, N., Andrews, P., Carpenter, K., Jakobs,
C., van der Knaap, M., Kirk, E. (2003).
D-2-hydroxyglutaric aciduria: A case with an
intermediate phenotype and prenatal diagnosis of
two affected fetuses. American Journal of
Medical Genetics. Part A, 120(4), 523-527.
Wiley, V., Carpenter, K., Bennetts, B., Wilcken,
B. (2003). Information overload - new
technologies, can we store the data? Southeast
Asian Journal of Tropical Medicine and Public
Health, 34(S3), 59-62.
Wiley, V., Carpenter, K., Bayliss, U., Wilcken,
B. (2003). Newborn screening - is it really that
simple? Southeast Asian Journal of Tropical
Medicine and Public Health, 34(S3), 107-110.
2002
Sim, K., Carpenter, K., Hammond, J.,
Christodoulou, J., Wilcken, B. (2002).
Acylcarnitine profiles in fibroblasts from patients
with respiratory chain defects can resemble those
from patients with mitochondrial fatty acid
Oxidation disorders. Metabolism: Clinical and
Experimental, 51(3), 366-371.
Wilcken, B., Carpenter, K., Wiley, V. (2002).
Neonatal screening for medium-chain acyl-CoA
dehydrogenase deficiency. The Lancet (North
American Edition), 359(9306), 627-628.
Sim, K., Carpenter, K., Hammond, J.,
Christodoulou, J., Wilcken, B. (2002).
Quantitative fibroblasts acylcarnitine profiles in
mitochondrial fatty acid beta-oxidation defects:
phenotype/metabolite correlations. Molecular
Genetics and Metabolism, 76(4), 327-334.
2000
Carpenter, K., Wilcken, B., Christodoulou, J.,
Thorburn, D. (2000). Holocarboxylase
synthetase deficiency: Urinary metabolites
masked by gross ketosis. Journal of Inherited
Metabolic Disease (JIMD), 23(8), 845-846.