An approach to the diagnosis of metabolic diseases

Title

An approach to the diagnosis of metabolic diseases

Creator

Barness LA

Publisher

Fetal And Pediatric Pathology

Date

2004

Subject

Child; Humans; infant; infant; Q3 Literature Search; Newborn; Metabolism; Laboratory Techniques and Procedures; Inborn Errors/diagnosis/genetics/metabolism

Description

Inborn metabolic errors, which are not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should be obtained and saved for later analysis during the critical stage. Many infants and children seen with acute symptoms are the ones most likely to have treatable diseases. At a more leisurely pace, other inborn errors can be diagnosed to provide appropriate counseling and prognosis.
2004

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

3-10

Issue

1

Volume

23

Citation

Barness LA, “An approach to the diagnosis of metabolic diseases,” Pediatric Palliative Care Library, accessed September 17, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12881.

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