Literature DB >> 7650559

Propionic acidemia without acidemia: a case report.

R Ramachandran1, J Pietz.   

Abstract

Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. Metabolic acidosis is a key feature of this disease and is useful in differentiating it from nonketotic hyperglycinemia. This case report is presented because significant metabolic acidosis was not a prominent or persistent finding in this patient.

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Year:  1995        PMID: 7650559

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  3 in total

1.  The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia.

Authors:  L Ierardi-Curto; P Kaplan; S Saitta; A Mazur; G T Berry
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

2.  Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.

Authors:  T Kuhara; M Ohse; Y Inoue; T Yorifuji; N Sakura; H Mitsubuchi; F Endo; J Ishimatu
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

3.  Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.

Authors:  Parvaneh Karimzadeh; Narjes Jafari; Farzad Ahmad Abadi; Sayena Jabbedari; Mohammad-Mahdi Taghdiri; Mohammad-Reza Alaee; Mohammad Ghofrani; Seyed Hassan Tonekaboni; Habibeh Nejad Biglari
Journal:  Iran J Child Neurol       Date:  2014
  3 in total

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