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Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (...

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69081040

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

About this item

Full title

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

Publisher

Dordrecht: Kluwer Academic Publishers

Journal title

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1149-1150

Language

English

Formats

Publication information

Publisher

Dordrecht: Kluwer Academic Publishers

More information

Scope and Contents

Contents

Summary
We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

Alternative Titles

Full title

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_69081040

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69081040

Other Identifiers

ISSN

0141-8955

E-ISSN

1573-2665

DOI

10.1007/s10545-005-4565-x

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