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1

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, Eleonora Paradies, Matthias R. Baumgartner, Yin-Hsiu Chien, Carmela Loguercio, Helene Ogier de Baulny, Marie-Cecile Nassogne, Manuel Schiff, F

Journal:

Year:

2009

Language:

english

File:

PDF, 306 KB

english, 2009

2

CL146 - Quand évoquer un déficit central en neurotransmetteurs ?

J. Baruteau, V. Bellavoine, O. Rigal, J.f. Benoist, F. Clot, M. Kretz, E. Ginglinger, H. Ogier De Baulny

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 59 KB

french, 2010

3

La grossesse et l'enfant de mère phénylcétonurique

française pour le dépistage et la prévention des handicaps Association, de l'enfant (AFDPHE), V Abadie, E Depondt, JP Farriaux, J Lepercq, S Lyonnet, N Maurin, H Ogier de Baulny, M Vidailhet

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 602 KB

1996

4

Trastornos hereditarios del metabolismo de la galactosa y la fructosa

Touati, G., Brivet, M., Ogier de Baulny, H.

Journal:

EMC - Pediatría

Year:

2012

File:

PDF, 301 KB

2012

5

Déficit de glycosylation des protéines: présentation clinique

Ogier de Baulny H, F Poggi-Travert, M Besnard, JM Saudubray

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 282 KB

1996

6

La maladie de Fabry: difficultés diagnostiques à propos de deux nouveaux cas

L Bréda, J Froment, H Ogier de Baulny, B Gilson, P Bindi, JD de Korwin

Journal:

La Revue de Médecine Interne

Year:

1997

File:

PDF, 98 KB

1997

7

CL145 - Insuffisance hépatocellulaire aiguë et hyperammoniémie : quand évoquer un déficit du cycle de l’urée ?

J. Baruteau, M. Schiff, P. Sachs, O. Rigal, J.F. Benoist, P. Durand, D. Debray, H. Ogier De Baulny

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 59 KB

french, 2010

8

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B12 absorption?

Amina Boina Abdallah, Hélène Ogier de Baulny, Renata Kozyraki, Sandrine Passemard, Odile Fenneteau, Sophie Lebon, Odile Rigal, Bettina Mesples, Karima Yacouben, Stéphane Giraudier, Jean-François Benoi

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 864 KB

english, 2012

9

Analyse retrospective de l’IRM cerebrale dans 37 cas de cytopathie mitochondriale

Chalard, F., Elmaleh-Bergès, M., Schiff, M., Ogier de Baulny, H., Sebag, G.

Journal:

Journal de Radiologie

Year:

2007

Language:

french

File:

PDF, 272 KB

french, 2007

10

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

Cyrille Barthélémy, Hélène Ogier De Baulny, Jorge Diaz, Marie Armelle Cheval, Paule Frachon, Norma Romero, Françoise Goutieres, Michel Fardeau, Anne Lombès

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 5.75 MB

english, 2001

11

Leigh's disease due to a new mutation in the PDHX gene

Manuel Schiff, Manuele Miné, Michèle Brivet, Cécile Marsac, Monique Elmaleh-Bergés, Philippe Evrard, Hélène Ogier De Baulny

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 239 KB

english, 2006

12

Corrections

Manuel Schiff, Manuele Miné, Michèle Brivet, Cécile Marsac, Monique Elmaleh-Bergés, Philippe Evrard, Hélène Ogier De Baulny

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

13

Immunohistochemical analysis of muscle cytochromecoxidase deficiency in children

Stefanie Possekel, Anne Lombes, Helene Ogier de Baulny, Marie-Arnelle Cheval, Michel Fardeau, Bernhard Kadenbach, Norma B. Romero

Journal:

Histochemistry and Cell Biology

Year:

1995

Language:

english

File:

PDF, 2.96 MB

english, 1995

14

Morphological studies of skeletal muscle in lactic acidosis

N. B. Romero, A. Lombès, G. Touati, O. Rigal, P. Frachon, M. A. Cheval, M. Giraud, S. Possekel, M. Fardeau, H. Ogier de Baulny

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 1.06 MB

english, 1996

15

Clinical and molecular heterogeneity of cytochromecoxidase deficiency in the newborn

A. Lombes, N. B. Romero, G. Touati, P. Frachon, M. A. Cheval, M. Giraud, D. Simon, H. Ogier de Baulny

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 685 KB

english, 1996

16

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

François Labarthe, Jean François Benoist, Michèle Brivet, Christine Vianey-Saban, François Despert, Hélène Ogier de Baulny

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

17

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

G. Touati, V. Valayannopoulos, K. Mention, P. de Lonlay, P. Jouvet, E. Depondt, M. Assoun, J. C. Souberbielle, D. Rabier, H. Ogier de Baulny, J.-M. Saudubray

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 913 KB

english, 2006

18

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

A. Masurel-Paulet, J. Poggi-Bach, M.-O. Rolland, O. Bernard, N. Guffon, D. Dobbelaere, J. Sarles, H. Ogier de Baulny, G. Touati

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 296 KB

english, 2008

19

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

M. Schiff, S. Loublier, A. Coulibaly, P. Bénit, H. Ogier de Baulny, P. Rustin

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 375 KB

english, 2009

20

Should transcobalamin deficiency be treated aggressively?

Manuel Schiff, Hélène Ogier de Baulny, Ghislaine Bard, Vincent Barlogis, Christian Hamel, Stuart J. Moat, Sylvie Odent, Graham Shortland, Guy Touati, Stéphane Giraudier

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 242 KB

english, 2010

21

Isolated remethylation disorders: do our treatments benefit patients?

Manuel Schiff, Jean-François Benoist, Bogdana Tilea, Nicolas Royer, Stéphane Giraudier, Hélène Ogier de Baulny

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 328 KB

english, 2011

22

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut-Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert Mc

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

23

Erratum to: Isolated remethylation disorders: do our treatments benefit patients?

Manuel Schiff, Jean-François Benoist, Bogdana Tilea, Nicolas Royer, Stéphane Giraudier, Hélène Ogier de Baulny

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

24

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

Cleary, M A, Feillet, F, White, F J, Vidailhet, M, MacDonald, A, Grimsley, A, Maurin, N, de Baulny, H Ogier, Rutherford, P J

Journal:

European Journal of Clinical Nutrition

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

25

N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients

Acquaviva, Cecile, Benoist, Jean-François, Callebaut, Isabelle, Guffon, Nathalie, Ogier de Baulny, Hélène, Touati, Guy, Aydin, Ahmet, Porquet, Dominique, Elion, Jacques

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 331 KB

english, 2001

26

Functional characterization of novel mutations in the human cytochrome b gene

Legros, Frédéric, Chatzoglou, Evi, Frachon, Paule, Ogier de Baulny, Hélène, Laforêt, Pascal, Jardel, Claude, Godinot, Catherine, Lombès, Anne

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 228 KB

english, 2001

27

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy

E. Touma, T. Suormala, E. R. Baumgartner, B. Gerbaka, H. Ogier de Baulny, J. Loiselet

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

28

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

Touati, G., Poggi-Travert, F., Ogier de Baulny, H., Rahier, J., Brunelle, F., Nihoul-Fekete, C., Czernichow, P., Saudubray, J. M.

Journal:

European Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 282 KB

english, 1998

29

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Munnich, Agnè

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 905 KB

english, 2008

30

Neonatal screening and long-term follow-up of phenylketonuria: the French database

Véronique Abadie, Jacques Berthelot, François Feillet, Nicole Maurin, Annie Mercier, Hélène Ogier de Baulny, Loı̈c de Parscau

Journal:

Early Human Development

Year:

2001

Language:

english

File:

PDF, 140 KB

english, 2001

31

Flow Cytometric Evaluation of Mitochondrial Activity and Membrane Integrity in Fresh and Cryopreserved Rainbow Trout (Oncorhynchus mykiss) Spermatozoa

B.Ogier De Baulny, Y. Le Vern, D. Kerboeuf, G. Maisse

Journal:

Year:

1997

Language:

english

File:

PDF, 147 KB

english, 1997

32

Membrane Integrity, Mitochondrial Activity, ATP Content, and Motility of the European Catfish (Silurus glanis) Testicular Spermatozoa after Freezing with Different Cryoprotectants

B Ogier de Baulny, C Labbé, G Maisse

Journal:

Year:

1999

Language:

english

File:

PDF, 126 KB

english, 1999

33

Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut− Methylmalonyl-CoA Deficiency

Jean-François Benoist, Cecile Acquaviva, Isabelle Callebaut, Nathalie Guffon, Hélène Ogier de Baulny, Jean-Paul Mornon, Dominique Porquet, Jacques Elion

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 136 KB

english, 2001

34

Vaccination of juvenile turbot, Scophthalmus maximus L., against vibriosis

C. Quentel, M.Ogier de Baulny

Journal:

Year:

1995

Language:

english

File:

PDF, 459 KB

english, 1995

35

Erreurs innées du métabolisme du GABA

P Divry, H Ogier de Baulny

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 178 KB

1996

36

Synthèse clinique et protocole d'investigation: les signes «extrapyramidaux», orientation clinique

P Evrard, MC Nassogne, H Ogier de Baulny, E Fernandez-Alvarez, C Bonnier

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 162 KB

1996

37

Intolérance aux protéines dibasiques avec lysinurie: aspect caractéristique de l'atteinte médullaire

V Doireau, O Fenneteau, M Duval, S Perelman, E Vilmer, G Touati, N Schlegel, H Ogier de Baulny

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 432 KB

1996

38

Consensus national sur la prise en charge des enfants dépistés avec une hyperphénylalaninémie

V. Abadie, J. Berthelot, F. Feillet, N. Maurin, A. Mercier, H. Ogier de Baulny, L. de Parscau

Journal:

Archives de Pédiatrie

Year:

2005

Language:

french

File:

PDF, 151 KB

french, 2005

39

Le syndrôme de Sjögren-Larsson : à propos de 2 cas

C. Galoin-Bertail, H. Ogier de Baulny, R. Wanders, M. Schiff, V. Bellavoine, A. Mlika, G. Benoist, J. Baruteau

Journal:

Archives de Pédiatrie

Year:

2012

File:

PDF, 680 KB

2012

40

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

Manuèle Miné, Michèle Brivet, Manuel Schiff, Hélène Ogier de Baulny, Nadia Chuzhanova, Cécile Marsac

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 743 KB

english, 2006

41

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

A. Boichard, L. Venet, T. Naas, A. Boutron, L. Chevret, H. Ogier de Baulny, P. De Lonlay, A. Legrand, P. Nordman, M. Brivet

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 788 KB

english, 2008

42

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

Hélène Pagniez-Mammeri, Anne Lombes, Michèle Brivet, Hélène Ogier-de Baulny, Pierre Landrieu, Alain Legrand, Abdelhamid Slama

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 206 KB

english, 2009

43

Transient fulminant liver failure as an initial presentation in citrullinemia type I

Hannaneh Faghfoury, Julian Baruteau, Helene Ogier de Baulny, Johannes Häberle, Andreas Schulze

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

44

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

A. Boutron, C. Acquaviva, C. Vianey-Saban, P. de Lonlay, H. Ogier de Baulny, N. Guffon, D. Dobbelaere, F. Feillet, F. Labarthe, D. Lamireau, A. Cano, T. Billette de Villemeur, A. Munnich, J.M. Saudubr

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 513 KB

english, 2011

45

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

A. Imbard, A. Boutron, C. Vequaud, M. Zater, P. de Lonlay, H. Ogier de Baulny, C. Barnerias, M. Miné, C. Marsac, J.-M. Saudubray, M. Brivet

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 868 KB

english, 2011

46

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder

Hélène Ogier de Baulny, Manuel Schiff, Carlo Dionisi-Vici

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

47

Reply

Michel Duval, Hélène Ogier de Baulny, Etienne Vilmer

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 127 KB

english, 2000

48

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase

H.Ogier de Baulny, A. Slama, G. Touati, D.M. Turnbull, M. Pourfarzam, M. Brivet

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 545 KB

english, 1995

49

Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance

Michel Duval, Odile Fenneteau, Valérie Doireau, Albert Faye, Dominique Emilie, Patricia Yotnda, Jean-Claude Drapier, Nicole Schlegel, Ghislaine Sterkers, Hélène Ogier de Baulny, Etienne Vilmer

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 291 KB

english, 1999

50

Les déficits du cycle de l'urée révélés à l'âge adulte

F. Maillot, H. Ogier de Baulny

Journal:

La Revue de Médecine Interne

Year:

2002

File:

PDF, 1007 KB

2002

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