Literature DB >> 16972179

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.

Germaine Pierre, Paul Gissen, Anupam Chakrapani, Anita McDonald, Maryanne Preece, Joy Wright.   

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Year:  2006        PMID： 16972179     DOI： 10.1007/s10545-006-0352-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Maternal pyridoxine non-responsive homocystinuria: the role of dietary treatment and anticoagulation.

Authors:  S Yap; C Barry-Kinsella; E R Naughten
Journal:  BJOG       Date:  2001-04       Impact factor: 6.531

2.  Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.

Authors:  M A Vilaseca; M L Cuartero; M Martinez de Salinas; N Lambruschini; X Pintó; R Urreizti; S Balcells; D Grinberg
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

3.  Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Authors:  H L Levy; J E Vargas; S E Waisbren; T W Kurczynski; E R Roeder; R S Schwartz; S Rosengren; C Prasad; C R Greenberg; B M Gilfix; D MacGregor; V E Shih; L Bao; J P Kraus
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982

4.  An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.

Authors:  Angela Matthews; Trevor N Johnson; Amin Rostami-Hodjegan; Anupam Chakrapani; J Edward Wraith; Stuart J Moat; James R Bonham; Geoffrey T Tucker
Journal:  Br J Clin Pharmacol       Date:  2002-08       Impact factor: 4.335
  4 in total
  5 in total

1.  Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Authors:  Sally P Stabler; Cynthia Freehauf; Robert H Allen; Janet Thomas; Renata Gallagher
Journal:  JIMD Rep       Date:  2017-03-09

Review 2.  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

3.  Treatment of cobalamin C (cblC) deficiency during pregnancy.

Authors:  Catherine Brunel-Guitton; Teresa Costa; Grant A Mitchell; Marie Lambert
Journal:  J Inherit Metab Dis       Date:  2010-09-10       Impact factor: 4.982

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
  5 in total

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