Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Tejaswi Kandula; Heidi L Peters; Michael Collingwood Fahey

doi:10.1016/j.jocn.2013.12.030

Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Tejaswi Kandula, Heidi L Peters, Michael Collingwood Fahey

Paediatrics Monash Health

Research output: Contribution to journal › Article › Other

6 Citations (Scopus)

Abstract

Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rate, autosomal recessive, conditions that present with neurological dsyfunction of varying severity.

Original language	English
Pages (from-to)	1815 - 1817
Number of pages	3
Journal	Journal of Clinical Neuroscience
Volume	21
Issue number	10
DOIs	https://doi.org/10.1016/j.jocn.2013.12.030
Publication status	Published - 2014

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10.1016/j.jocn.2013.12.030

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title = "Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment",

abstract = "Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rate, autosomal recessive, conditions that present with neurological dsyfunction of varying severity.",

author = "Tejaswi Kandula and Peters, \{Heidi L\} and Fahey, \{Michael Collingwood\}",

year = "2014",

doi = "10.1016/j.jocn.2013.12.030",

language = "English",

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journal = "Journal of Clinical Neuroscience",

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T1 - Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

AU - Kandula, Tejaswi

AU - Peters, Heidi L

AU - Fahey, Michael Collingwood

PY - 2014

Y1 - 2014

N2 - Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rate, autosomal recessive, conditions that present with neurological dsyfunction of varying severity.

AB - Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rate, autosomal recessive, conditions that present with neurological dsyfunction of varying severity.

UR - https://www.scopus.com/pages/publications/84908551125

U2 - 10.1016/j.jocn.2013.12.030

DO - 10.1016/j.jocn.2013.12.030

M3 - Article

SN - 0967-5868

VL - 21

SP - 1815

EP - 1817

JO - Journal of Clinical Neuroscience

JF - Journal of Clinical Neuroscience

IS - 10

ER -

Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Abstract

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