Literature DB >> 2512424

Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.

C Pérez-Cerdá1, B Merinero, P Sanz, A Jiménez, M J García, A Urbón, J Díaz Recasens, C Ramos, C Ayuso, M Ugarte.   

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Year:  1989        PMID： 2512424     DOI： 10.1007/bf03335396

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


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  6 in total

1.  Prenatal diagnosis and family studies in a case of propionicacidaemia.

Authors:  D Gompertz; P A Goodey; H Thom; G Russell; A W Johnston; D H Mellor; M W MacLean; M E Ferguson-Smith; M A Ferguson-Smith
Journal:  Clin Genet       Date:  1975-10       Impact factor: 4.438

2.  Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.

Authors:  B Chadefaux; C Augereau; D Rabier; F Rocchiccioli; J Boué; J F Oury; P Kamoun
Journal:  Prenat Diagn       Date:  1988-02       Impact factor: 3.050

3.  Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.

Authors:  F R Sweetman; K M Gibson; L Sweetman; W L Nyhan; H Chin; W Swartz; O W Jones
Journal:  Prenat Diagn       Date:  1986 May-Jun       Impact factor: 3.050

4.  Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells.

Authors:  H F Willard; L M Ambani; A C Hart; M J Mahoney; L E Rosenberg
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

5.  Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia.

Authors:  G Naylor; L Sweetman; W L Nyhan; C Hornbeck; J Griffiths; L Mörch; S Brandänge
Journal:  Clin Chim Acta       Date:  1980-11-06       Impact factor: 3.786

6.  Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria.

Authors:  W Weyler; L Sweetman; D C Maggio; W L Nyhan
Journal:  Clin Chim Acta       Date:  1977-05-02       Impact factor: 3.786
  6 in total
  4 in total

1.  Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Authors:  Ana Jorge-Finnigan; Cristina Aguado; Rocio Sánchez-Alcudia; David Abia; Eva Richard; Begoña Merinero; Alejandra Gámez; Ruma Banerjee; Lourdes R Desviat; Magdalena Ugarte; Belen Pérez
Journal:  Hum Mutat       Date:  2010-09       Impact factor: 4.878

2.  Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Authors:  B Merinero; B Pérez; C Pérez-Cerdá; A Rincón; L R Desviat; M A Martínez; P Ruiz Sala; M J García; L Aldamiz-Echevarría; J Campos; V Cornejo; M Del Toro; A Mahfoud; M Martínez-Pardo; R Parini; C Pedrón; L Peña-Quintana; M Pérez; M Pourfarzam; M Ugarte
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

3.  Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Authors:  Ana Jorge-Finnigan; Sandra Brasil; Jarl Underhaug; Pedro Ruíz-Sala; Begoña Merinero; Ruma Banerjee; Lourdes R Desviat; Magdalena Ugarte; Aurora Martinez; Belén Pérez
Journal:  Hum Mol Genet       Date:  2013-05-13       Impact factor: 6.150

4.  Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Authors:  A Rincón; C Aguado; L R Desviat; R Sánchez-Alcudia; M Ugarte; B Pérez
Journal:  Am J Hum Genet       Date:  2007-12       Impact factor: 11.025
  4 in total

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