Literature DB >> 15613727

Blood spot homocysteine: a feasibility and stability study.

Ann Bowron1, Anna Barton, Jeff Scott, David Stansbie.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15613727     DOI： 10.1373/clinchem.2004.041640

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


× No keyword cloud information.
  9 in total

1.  Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.

Authors:  Ahmad N Alodaib; Kevin Carpenter; Veronica Wiley; Tiffany Wotton; John Christodoulou; Bridget Wilcken
Journal:  JIMD Rep       Date:  2011-12-13

2.  Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

Authors:  Jürgen G Okun; Hongying Gan-Schreier; Tawfeq Ben-Omran; Kathrin V Schmidt; Junmin Fang-Hoffmann; Gwendolyn Gramer; Ghassan Abdoh; Noora Shahbeck; Hilal Al Rifai; Abdul Latif Al Khal; Gisela Haege; Chuan-Chi Chiang; David C Kasper; Bridget Wilcken; Peter Burgard; Georg F Hoffmann
Journal:  JIMD Rep       Date:  2016-06-21

3.  Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

Authors:  Gwendolyn Gramer; Ghassan Abdoh; Tawfeg Ben-Omran; Noora Shahbeck; Rehab Ali; Laila Mahmoud; Junmin Fang-Hoffmann; Georg F Hoffmann; Hilal Al Rifai; Jürgen G Okun
Journal:  World J Pediatr       Date:  2017-01-15       Impact factor: 2.764

Review 4.  Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Authors:  Andrew A M Morris; Viktor Kožich; Saikat Santra; Generoso Andria; Tawfeg I M Ben-Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Markéta Pavlíková; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman
Journal:  J Inherit Metab Dis       Date:  2016-10-24       Impact factor: 4.982

Review 5.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

Review 6.  Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders.

Authors:  Stuart J Moat; Roanna S George; Rachel S Carling
Journal:  Int J Neonatal Screen       Date:  2020-03-26

7.  Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.

Authors:  Miroslav Janosík; Jitka Sokolová; Bohumila Janosíková; Jakub Krijt; Veronika Klatovská; Viktor Kozich
Journal:  J Pediatr       Date:  2008-10-31       Impact factor: 4.406

Review 8.  Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Authors:  Martina Huemer; Viktor Kožich; Piero Rinaldo; Matthias R Baumgartner; Begoña Merinero; Elisabetta Pasquini; Antonia Ribes; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982

9.  Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Authors:  Giovana R Weber Hoss; Fernanda Sperb-Ludwig; Ida V D Schwartz; Henk J Blom
Journal:  Mol Genet Genomic Med       Date:  2020-03-30       Impact factor: 2.183
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.