Literature DB >> 12118529

Successful pregnancy in a woman with mut- methylmalonic acidaemia.

F Deodato1, C Rizzo, S Boenzi, F Baiocco, G Sabetta, C Dionisi-Vici.   

Abstract

We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia. Under vitamin B12 and carnitine therapy she remained symptom-free throughout pregnancy, labour, delivery and the postpartum period and gave birth to a term, healthy female newborn. At follow-up, the child shows normal somatic and neurocognitive development.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12118529     DOI： 10.1023/a:1015632911801

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


  3 in total

Review 1.  Inborn errors of metabolism and pregnancy.

Authors:  J H Walter
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

2.  Successful pregnancy in severe methylmalonic acidaemia.

Authors:  M P Wasserstein; S Gaddipati; S E Snyderman; K Eddleman; R J Desnick; C Sansaricq
Journal:  J Inherit Metab Dis       Date:  1999-10       Impact factor: 4.982

3.  Methylmalonic aciduria in pregnancy: a case report.

Authors:  E Diss; J Iams; N Reed; D S Roe; C Roe
Journal:  Am J Obstet Gynecol       Date:  1995-03       Impact factor: 8.661
  3 in total
  12 in total

1.  Methylmalonic acidaemia in pregnancy.

Authors:  Yves Jacquemyn; Marieke Den Hartog; Francois Eyskens
Journal:  BMJ Case Rep       Date:  2014-03-31

Review 2.  Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

Authors:  Donna B Raval; Melissa Merideth; Jennifer L Sloan; Nancy E Braverman; Robert L Conway; Irini Manoli; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2015-01-08       Impact factor: 4.982

Review 3.  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

4.  A series of pregnancies in women with inherited metabolic disease.

Authors:  Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy
Journal:  J Inherit Metab Dis       Date:  2011-09-15       Impact factor: 4.982

5.  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 6.  'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Authors:  Carlo Dionisi-Vici; Federica Deodato; Wulf Röschinger; William Rhead; Bridget Wilcken
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

7.  Pregnancy issues in inherited metabolic disorders.

Authors:  Philip J Lee
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

8.  Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Authors:  E Martín-Hernández; P J Lee; A Micciche; S Grunewald; R H Lachmann
Journal:  J Inherit Metab Dis       Date:  2009-07-23       Impact factor: 4.982

Review 9.  Pregnancy in women with inherited metabolic disease.

Authors:  Elaine Murphy
Journal:  Obstet Med       Date:  2015-03-29

Review 10.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.