Literature DB >> 11673377

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.

D H Chace1, J C DiPerna, T A Kalas, R W Johnson, E W Naylor.   

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Year:  2001        PMID： 11673377

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  30 in total

1.  Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Authors:  Edward S Y Wong; Chantelle McIntyre; Heidi L Peters; Enzo Ranieri; Donald S Anson; Janice M Fletcher
Journal:  Hum Gene Ther       Date:  2014-04-02       Impact factor: 5.695

2.  Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

Authors:  Dawn Lea; Oleg Shchelochkov; Jennifer Cleary; Laura M Koehly
Journal:  JPEN J Parenter Enteral Nutr       Date:  2018-10-24       Impact factor: 4.016

3.  High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.

Authors:  Gwendolyn Gramer; Junmin Fang-Hoffmann; Patrik Feyh; Glynis Klinke; Peter Monostori; Jürgen G Okun; Georg F Hoffmann
Journal:  World J Pediatr       Date:  2018-06-15       Impact factor: 2.764

Review 4.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

5.  Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity.

Authors:  Stephanie J Mihalik; Bret H Goodpaster; David E Kelley; Donald H Chace; Jerry Vockley; Frederico G S Toledo; James P DeLany
Journal:  Obesity (Silver Spring)       Date:  2010-01-28       Impact factor: 5.002

6.  Enamel defects and salivary methylmalonate in methylmalonic acidemia.

Authors:  C W Bassim; J T Wright; J P Guadagnini; R Muralidharan; J Sloan; D L Domingo; C P Venditti; T C Hart
Journal:  Oral Dis       Date:  2009-01-09       Impact factor: 3.511

7.  Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Authors:  James D Weisfeld-Adams; Mark A Morrissey; Brian M Kirmse; Bobbie R Salveson; Melissa P Wasserstein; Peter J McGuire; Sherlykutty Sunny; Jessica L Cohen-Pfeffer; Chunli Yu; Michele Caggana; George A Diaz
Journal:  Mol Genet Metab       Date:  2009-09-27       Impact factor: 4.797

8.  Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Authors:  Faiqa Imtiaz; Bashayer M Al-Mubarak; Abeer Al-Mostafa; Mohamed Al-Hamed; Rabab Allam; Zuhair Al-Hassnan; Mohammed Al-Owain; Hamad Al-Zaidan; Zuhair Rahbeeni; Alya Qari; Eissa Ali Faqeih; Ali Alasmari; Fuad Al-Mutairi; Majid Alfadhel; Wafaa M Eyaid; Mohamed S Rashed; Moeenaldeen Al-Sayed
Journal:  JIMD Rep       Date:  2015-11-29

9.  Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

Authors:  Friederike Hörster; Stefan Kölker; J Gerard Loeber; Martina C Cornel; Georg F Hoffmann; Peter Burgard
Journal:  JIMD Rep       Date:  2016-06-26

10.  Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).

Authors:  Randy J Chandler; Charles P Venditti
Journal:  Mol Genet Metab       Date:  2012-09-25       Impact factor: 4.797
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