Literature DB >> 27493302

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

Sarar Mohamed1.   

Abstract

Inborn errors of metabolism (IEM) constitute a group of inherited disorders that cause significant neonatal morbidity and mortality. This diverse group of diseases present with different clinical manifestations that make the diagnosis a real challenge. Early detection and appropriate investigations prevent complications and save lives. The aim of this review is to enable general paediatricians to clinically recognize IEM and plan relevant investigations at the appropriate time in a cost-effective manner, especially in countries where resources are limited.

Entities:  

Keywords:  Diagnosis; Inborn errors; Metabolism; Neonate

Year:  2011        PMID: 27493302      PMCID: PMC4949777     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN: 0256-4408


  23 in total

1.  PHENYLKETONURIA IN A SUDANESE FAMILY.

Authors:  M M HASSAN
Journal:  J Pediatr       Date:  1964-02       Impact factor: 4.406

2.  Nonketotic hyperglycinemia: A life-threatening disorder in Saudi newborns.

Authors:  N Haider; M A Salih; S Al-Rasheed; S Al-Mofada; P M Krahn; M Kabiraj
Journal:  Ann Saudi Med       Date:  1996-07       Impact factor: 1.526

Review 3.  The pathophysiology and treatment of hereditary tyrosinemia type 1.

Authors:  M Grompe
Journal:  Semin Liver Dis       Date:  2001-11       Impact factor: 6.115

4.  A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

Authors:  Mahmoud F El-Said; Ramin Badii; M S Bessisso; Noora Shahbek; Mariam G El-Ali; Mariam El-Marikhie; M El-Zyoid; M S Z Salem; Abdulbari Bener; Georg F Hoffmann; Johannes Zschocke
Journal:  Hum Mutat       Date:  2006-07       Impact factor: 4.878

5.  Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.

Authors:  Hissa Moammar; George Cheriyan; Revi Mathew; Nouriya Al-Sannaa
Journal:  Ann Saudi Med       Date:  2010 Jul-Aug       Impact factor: 1.526

Review 6.  Neonatal seizures.

Authors:  Mary L Zupanc
Journal:  Pediatr Clin North Am       Date:  2004-08       Impact factor: 3.278

Review 7.  The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

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Journal:  Mol Genet Metab       Date:  2004-06       Impact factor: 4.797

8.  Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy.

Authors:  Gerald F Cox
Journal:  Prog Pediatr Cardiol       Date:  2007

Review 9.  Inborn errors of metabolism: part 1: overview.

Authors:  Paul A Levy
Journal:  Pediatr Rev       Date:  2009-04

10.  The impact of screening for propionic and methylmalonic acidaemia.

Authors:  James V Leonard; Suresh Vijayaraghavan; John H Walter
Journal:  Eur J Pediatr       Date:  2003-10-30       Impact factor: 3.183

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  3 in total

Review 1.  The collapsed newborn in the emergency department.

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

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Review 3.  Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

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