Literature DB >> 26629393

Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism.

Madhavi Vasikarla1, Aakash Pandita2, Deepak Sharma2, Oleti T Pratap2, Srinivas Murki2.   

Abstract

Entities:  

Year:  2015        PMID： 26629393      PMCID： PMC4664111          DOI： 10.18295/squmj.2015.15.04.026

Source DB:  PubMed          Journal:  Sultan Qaboos Univ Med J        ISSN： 2075-051X


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  12 in total

Review 1.  Emergency treatment in glutaryl-CoA dehydrogenase deficiency.

Authors:  S Kölker; C R Greenberg; M Lindner; E Müller; E R Naughten; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

2.  Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.

Authors:  Christopher B R Funk; Asuri N Prasad; Patrick Frosk; Sven Sauer; Stefan Kölker; Cheryl R Greenberg; Marc R Del Bigio
Journal:  Brain       Date:  2005-02-02       Impact factor: 13.501

Review 3.  Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Authors:  M Lindner; S Kölker; A Schulze; E Christensen; C R Greenberg; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 4.  Glutaric acidemia type 1.

Authors:  Gary L Hedlund; Nicola Longo; Marzia Pasquali
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

5.  [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

Authors:  Peng -qiang Wen; Guo-bing Wang; Xiao-hong Liu; Zhan-ling Chen; Yue Shang; Dong Cui; Ping Song; Quan Yuan; Shu-li Chen; Jian-xiang Liao; Cheng-rong Li
Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi       Date:  2012-12

6.  Type I glutaric aciduria, part 2: a model of acute striatal necrosis.

Authors:  Kevin A Strauss; D Holmes Morton
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

7.  Type I glutaric aciduria, part 1: natural history of 77 patients.

Authors:  Kevin A Strauss; Erik G Puffenberger; Donna L Robinson; D Holmes Morton
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

8.  Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Authors:  Inga Harting; Eva Neumaier-Probst; Angelika Seitz; Esther M Maier; Birgit Assmann; Ivo Baric; Monica Troncoso; Chris Mühlhausen; Johannes Zschocke; Nikolas P S Boy; Georg F Hoffmann; Sven F Garbade; Stefan Kölker
Journal:  Brain       Date:  2009-05-11       Impact factor: 13.501

9.  [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Authors:  Qiao Wang; Yuan Ding; Yupeng Liu; Xiyuan Li; Tongfei Wu; Jinqing Song; Yujie Wang; Yanling Yang
Journal:  Zhonghua Er Ke Za Zhi       Date:  2014-06

10.  Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.

Authors:  Johannes Pfeil; Stefan Listl; Georg F Hoffmann; Stefan Kölker; Martin Lindner; Peter Burgard
Journal:  Orphanet J Rare Dis       Date:  2013-10-17       Impact factor: 4.123
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  1 in total

1.  Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.

Authors:  Parag M Tamhankar; Lakshmi Vasudevan; Pratima Kondurkar; Sarfaraj Niazi; Rita Christopher; Dhaval Solanki; Pooja Dholakia; Mamta Muranjan; Mahesh Kamate; Umesh Kalane; Jayesh Sheth; Vasundhara Tamhankar; Reena Gulati; Madhavi Vasikarla; Sumita Danda; Shaik M Naushad; Katta M Girisha; Shekhar Patil
Journal:  J Pediatr Genet       Date:  2020-09-02
  1 in total

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