Literature DB >> 18470866

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case.

C Mellerio, S Marignier, P Roth, P Gaucherand, V des Portes, J P Pracros, L Guibaud.   

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Year:  2008        PMID： 18470866     DOI： 10.1002/uog.5336

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN： 0960-7692            Impact factor:   7.299


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  10 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

Review 2.  Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Authors:  Sophie Collardeau-Frachon; Marie-Pierre Cordier; Massimiliano Rossi; Laurent Guibaud; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-04-22       Impact factor: 4.982

Review 3.  Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors:  Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

4.  Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

Authors:  Nikolas Boy; Gisela Haege; Jana Heringer; Birgit Assmann; Chris Mühlhausen; Regina Ensenauer; Esther M Maier; Thomas Lücke; Georg F Hoffmann; Edith Müller; Peter Burgard; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2012-09-13       Impact factor: 4.982

5.  Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Authors:  J Nunes; S Loureiro; S Carvalho; R P Pais; C Alfaiate; A Faria; P Garcia; L Diogo
Journal:  Neuroradiol J       Date:  2013-05-10

6.  Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.

Authors:  Amy Brown; Louise Crowe; Miriam H Beauchamp; Vicki Anderson; Avihu Boneh
Journal:  JIMD Rep       Date:  2014-12-11

Review 7.  Diagnosis and management of glutaric aciduria type I--revised recommendations.

Authors:  Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

8.  Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Authors:  Marloes E M Vester; Gepke Visser; Frits A Wijburg; Francjan J van Spronsen; Monique Williams; Rick R van Rijn
Journal:  Eur J Pediatr       Date:  2016-05-31       Impact factor: 3.183

9.  A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Authors:  Nikolas Boy; Jana Heringer; Gisela Haege; Esther M Glahn; Georg F Hoffmann; Sven F Garbade; Stefan Kölker; Peter Burgard
Journal:  Orphanet J Rare Dis       Date:  2015-12-22       Impact factor: 4.123

10.  Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Authors:  Nikolas Boy; Jana Heringer; Renate Brackmann; Olaf Bodamer; Angelika Seitz; Stefan Kölker; Inga Harting
Journal:  Orphanet J Rare Dis       Date:  2017-04-24       Impact factor: 4.123
  10 in total

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