FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

S Romano

Research Profile

Living Beings

Chemicals & Drugs

Disorders

Physiology

Procedures

DNA Mutational Analysis

Concepts & Ideas

Anatomy

Phenomena

Founder Effect

Co-author Network

Publications

TOP 3
N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Sophie Monnot; Valérie Serre; Bernadette Chadefaux-Vekemans; Joelle Aupetit; S Romano; Pascale de Lonlay; Jean-Marie Rival; Arnold Munnich; Julie Steffann; Jean-Paul Bonnefont
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of S Romano (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2009: N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Sophie Monnot; Valérie Serre; Bernadette Chadefaux-Vekemans; Joelle Aupetit; S Romano; Pascale de Lonlay; Jean-Marie Rival; Arnold Munnich; Julie Steffann; Jean-Paul Bonnefont
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Human mutation 2009;30(5):734-40.
2009: Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Journal of inherited metabolic disease 2009;32(2):159-62.
2008: Vassili Valayannopoulos; S Romano; Karine Mention; Anne Vassault; Daniel Rabier; Michel Polak; Jean-Jacques Robert; Yves de Keyzer; Pascale de Lonlay
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
European journal of pediatrics 2008;167(3):257-65.
2008: S Romano; D Samara; H Crosnier; Vassili Valayannopoulos; Michel Polak; Dominique Chrétien; Agnès Rötig; Arnold Munnich; R Brauner; Pascale de Lonlay
Variable outcome of growth hormone administration in respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(2):195-9.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2008: Karine Mention; F Lacaille; Vassili Valayannopoulos; S Romano; A Kuster; M Cretz; H Zaidan; L Galmiche; Francis Jaubert; Y de Keyzer; N Seta; P de Lonlay
Development of liver disease despite mannose treatment in two patients with CDG-Ib.
Molecular genetics and metabolism 2008;93(1):40-3.
2006: S Romano; Nathalie Boddaert; Isabelle Desguerre; Laurence Hubert; R Salomon; David J Seidenwurm; Nadia Bahi-Buisson; Rima Nabbout; Pascale Sonigo; Stanislas LYONNET; Francis Brunelle; Arnold Munnich; Pascale de Lonlay
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.