Literature DB >> 19339386

Inborn errors of metabolism: part 1: overview.

Paul A Levy1.   

Abstract

After completing this article, readers should be able to: 1. Recognize the signs and symptoms that are suggestive of an inborn error of metabolism. 2. Describe the characteristics of different classes of metabolic syndromes. 3. Formulate a logical diagnostic approach to determining which specific condition is present when an inborn error of metabolism is suspected. 4. Delineate the value and scope of newborn screening programs. 5. Be aware of treatment modalities for inborn errors of metabolism.

Entities:  

Mesh:

Year:  2009        PMID: 19339386     DOI: 10.1542/pir.30-4-131

Source DB:  PubMed          Journal:  Pediatr Rev        ISSN: 0191-9601


  9 in total

Review 1.  Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.

Authors:  Sarar Mohamed
Journal:  Sudan J Paediatr       Date:  2011

Review 2.  Treatment strategies for acute metabolic disorders in neonates.

Authors:  Sarar Mohamed
Journal:  Sudan J Paediatr       Date:  2011

3.  Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Authors:  Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce
Journal:  Genes (Basel)       Date:  2021-08-19       Impact factor: 4.096

4.  Computational modeling to predict nitrogen balance during acute metabolic decompensation in patients with urea cycle disorders.

Authors:  Erin L MacLeod; Kevin D Hall; Peter J McGuire
Journal:  J Inherit Metab Dis       Date:  2015-08-11       Impact factor: 4.982

Review 5.  Long-chain polyunsaturated fatty acids in inborn errors of metabolism.

Authors:  Katalin Fekete; Tamás Decsi
Journal:  Nutrients       Date:  2010-09-15       Impact factor: 5.717

Review 6.  Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.

Authors:  Donald Waters; Davies Adeloye; Daisy Woolham; Elizabeth Wastnedge; Smruti Patel; Igor Rudan
Journal:  J Glob Health       Date:  2018-12       Impact factor: 4.413

Review 7.  Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Authors:  Israa T Ismail; Megan R Showalter; Oliver Fiehn
Journal:  Metabolites       Date:  2019-10-21

Review 8.  A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.

Authors:  Sadie Hassall; Debbie Michelle Smith; Stewart Rust; Anja Wittkowski
Journal:  J Inherit Metab Dis       Date:  2022-02-24       Impact factor: 4.750

9.  Antibodies towards Tyrosine Amyloid-Like Fibrils Allow Toxicity Modulation and Cellular Imaging of the Assemblies.

Authors:  Dor Zaguri; Topaz Kreiser; Shira Shaham-Niv; Ehud Gazit
Journal:  Molecules       Date:  2018-05-26       Impact factor: 4.411

  9 in total

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