Publications by authors named "Shanti Balasubramaniam"

32Publications

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

JIMD Rep 2020 Jul 13;54(1):9-15. Epub 2020 Apr 13.

Department of Metabolic Medicine and Rheumatology Perth Children's Hospital Perth Western Australia Australia.

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http://dx.doi.org/10.1002/jmd2.12121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358673PMC
July 2020

Disorders of riboflavin metabolism.

J Inherit Metab Dis 2019 07 11;42(4):608-619. Epub 2019 Mar 11.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/jimd.12058
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http://dx.doi.org/10.1002/jimd.12058DOI Listing
July 2019

Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.

Eur J Clin Nutr 2019 Jun 14;73(6):961-965. Epub 2018 Aug 14.

School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.

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http://www.nature.com/articles/s41430-018-0286-8
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http://dx.doi.org/10.1038/s41430-018-0286-8DOI Listing
June 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.

J Paediatr Child Health 2017 12 11;53(12):1229-1232. Epub 2017 Aug 11.

Western Sydney Genetics Program, Children's' Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.13670DOI Listing
December 2017

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

J Inherit Metab Dis 2017 03 19;40(2):261-269. Epub 2016 Dec 19.

Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, KRI, Level 3, Locked Bag 4001, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1007/s10545-016-0010-6DOI Listing
March 2017

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

J Pediatr Genet 2016 Sep 15;5(3):174-80. Epub 2016 Jun 15.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1055/s-0036-1584358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999328PMC
September 2016

Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.

JIMD Rep 2016 26;29:33-38. Epub 2015 Nov 26.

Bioanalytics & Biochemistry, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359, Rheinbach, Germany.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_519
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http://link.springer.com/10.1007/8904_2015_519
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059203PMC
http://dx.doi.org/10.1007/8904_2015_519DOI Listing
November 2015

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

Mitochondrion 2015 Nov 30;25:113-9. Epub 2015 Oct 30.

Harry Perkins Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Western Australia 6009, Australia; School of Chemistry and Biochemistry, The University of Western Australia, Western Australia 6009, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249153003
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http://dx.doi.org/10.1016/j.mito.2015.10.008DOI Listing
November 2015

Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures.

JIMD Rep 2015 3;22:99-106. Epub 2015 Mar 3.

School of Paediatrics and Child Health, University of Western Australia, D184, Perth, WA, 6840, Australia,

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http://dx.doi.org/10.1007/8904_2015_417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486281PMC
July 2015

Inborn errors of pyrimidine metabolism: clinical update and therapy.

J Inherit Metab Dis 2014 Sep 17;37(5):687-98. Epub 2014 Jul 17.

Metabolic Unit, Princess Margaret Hospital, Roberts Road, Subiaco, Perth, WA, 6008, Australia.

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http://dx.doi.org/10.1007/s10545-014-9742-3DOI Listing
September 2014

Inborn errors of purine metabolism: clinical update and therapies.

J Inherit Metab Dis 2014 Sep 28;37(5):669-86. Epub 2014 Jun 28.

Metabolic Unit, Princess Margaret Hospital, Roberts Road, Subiaco, Perth, WA, 6008, Australia.

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http://dx.doi.org/10.1007/s10545-014-9731-6DOI Listing
September 2014

Breath-holding spell and macrocytic anaemia in a toddler.

Br J Haematol 2014 Jul 5;166(2):156. Epub 2014 May 5.

Department of Haematology Oncology, Child and Adolescent Health Services, Princess Margaret Hospital, Perth, WA, Australia.

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http://doi.wiley.com/10.1111/bjh.12927
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http://dx.doi.org/10.1111/bjh.12927DOI Listing
July 2014

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.

Brain Dev 2014 Aug 18;36(7):593-600. Epub 2013 Sep 18.

Mater Health Services and Mater Medical Research Institute, Brisbane 4101, Australia; School of Pharmacy, The University of Queensland, Brisbane 4101, Australia.

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http://dx.doi.org/10.1016/j.braindev.2013.08.013DOI Listing
August 2014

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

J Inherit Metab Dis 2012 Jul 10;35(4):589-601. Epub 2012 Jan 10.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Trust WC1N 3JH and Institute of Child Health, University College London, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-011-9441-2DOI Listing
July 2012

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S489-95. Epub 2010 Dec 16.

Genetic and Metabolic Unit, Department of Paediatrics, University Malaya Medical Centre, 50603 Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1007/s10545-010-9248-6DOI Listing
December 2010

Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.

Malays J Pathol 2008 Dec;30(2):109-14

Clinical Genetic Unit, Paediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, Malaysia.

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December 2008