Literature DB >> 20351150

An approach to the diagnosis of inherited metabolic disease.

M P Champion1.   

Abstract

Mesh:

Year:  2010        PMID: 20351150     DOI: 10.1136/adc.2008.151183

Source DB:  PubMed          Journal:  Arch Dis Child Educ Pract Ed        ISSN: 1743-0585            Impact factor:   1.309


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  9 in total

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2.  Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.

Authors:  Lianshu Han; Feng Han; Jun Ye; Wenjuan Qiu; Huiwen Zhang; Xiaolan Gao; Yu Wang; Wenjun Ji; Xuefan Gu
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3.  Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit.

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Review 4.  Animal models of intellectual disability: towards a translational approach.

Authors:  Carla A Scorza; Esper A Cavalheiro
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

5.  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

6.  Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.

Authors:  Reza Najafi; Mahin Hashemipour; Omid Yaghini; Fatemeh Najafi; Amirsalar Rashidianfar
Journal:  Indian J Endocrinol Metab       Date:  2016 Sep-Oct

7.  Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

Authors:  Eyad Altamimi; Mariam Khanfar; Omar Rabab'h; Zain Dardas; Luma Srour; Lina Mustafa; Bilal Azab
Journal:  Appl Clin Genet       Date:  2020-12-16

8.  The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.

Authors:  Yang Liu; Jie Zheng; Nan Liu; Xiaowei Xu; Xinjie Zhang; Ying Zhang; Guoxu Li; Geli Liu; Chunquan Cai; Jianbo Shu
Journal:  Mol Genet Genomic Med       Date:  2020-09-21       Impact factor: 2.183

9.  Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.

Authors:  Chenyi Wang; Haihong Lv; Xia Xu; Yuping Ma; Qian Li
Journal:  Mol Med Rep       Date:  2020-09-18       Impact factor: 2.952

  9 in total

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