Literature DB >> 8510995

Biochemical diagnosis of genetic diseases.

R S Wappner1.   

Abstract

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Year:  1993        PMID： 8510995     DOI： 10.3928/0090-4481-19930501-08

Source DB:  PubMed          Journal:  Pediatr Ann        ISSN： 0090-4481            Impact factor:   1.132


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  4 in total

1.  Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  K M Gibson; S B Cassidy; L H Seaver; R J Wanders; N G Kennaway; G A Mitchell; R P Spark
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia.

Authors:  Reza Najafi; Mahin Hashemipour; Neda Mostofizadeh; Mohammadreza Ghazavi; Jafar Nasiri; Armindokht Shahsanai; Fatemeh Famori; Fatemeh Najafi; Mohammad Moafi
Journal:  Iran J Child Neurol       Date:  2016

3.  Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals.

Authors:  J Pérez-López; L Ceberio-Hualde; J S García-Morillo; J M Grau-Junyent; A Hermida Ameijeiras; M López-Rodríguez; J C Milisenda; M Moltó Abad; M Morales-Conejo; J J Nava Mateos
Journal:  Mol Genet Metab Rep       Date:  2017-02-03

4.  Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department.

Authors:  Mamdouh Abdel Maksoud; Solaf Mohamed ELsayed; Rania H Shatla; Abdulbasit Abdulhalim Imam; Riad M Elsayed; Amira Aa Mosabah; Ashraf M Sherif
Journal:  Neuropsychiatr Dis Treat       Date:  2018-06-29       Impact factor: 2.570
  4 in total

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