H. Ogier De Baulny: search on Z-Library

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1

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

2

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

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

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

6

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

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

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

9

Anomalies héréditaires du métabolisme du galactose et du fructose

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

Journal:

EMC - Pédiatrie

Year:

2005

File:

PDF, 265 KB

2005

10

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

11

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

12

Macrocytoses d’origine métabolique

Schiff, M., Ogier de Baulny, H.

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 250 KB

french, 2013

13

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, Ogier de Baulny, Hélène, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B., Rigal, Odile, Rusti

Journal:

New England Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 571 KB

english, 2016

14

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

15

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

16

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

17

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

18

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

19

Erreurs innées du métabolisme du GABA

P Divry, H Ogier de Baulny

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 178 KB

1996

20

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

21

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

22

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

23

La maladie de Niemann-Pick type C : un diagnostic précoce face aux espoirs thérapeutiques

H. Ogier de Baulny

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 115 KB

french, 2010

24

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

25

Manifestations hématologiques dans les erreurs innées du métabolisme

P de Lonlay, O Fenneteau, G Touati, C Mignot, T Billette de Villemeur, D Rabier, S Blanche, H Ogier de Baulny, J.M Saudubray

Journal:

Archives de Pédiatrie

Year:

2002

Language:

french

File:

PDF, 8.05 MB

french, 2002

26

Maternal and fetal tyrosinemia type I

Garcia Segarra, N., Roche, S., Imbard, A., Benoist, J. F., Grenèche, M. O., Davit-Spraul, A., Ogier de Baulny, H.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

27

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Herenger, Yvan, Maes, Emmanuelle, François, Laurent, Pasco, Jeremy, Bouchereau, Juliette, Pichard, Samia, Ogier de Baulny, Hélène, Schiff, Manuel

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 210 KB

2019

28

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

29

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

30

Encéphalopathie myoneurogastro-intestinale

Rousset, P., Elmaleh-Bergès, M., Ogier de Baulny, H., Viala, J., Slama, A., Sebag, G.

Journal:

Journal of Neuroradiology

Year:

2008

Language:

french

File:

PDF, 393 KB

french, 2008

31

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

32

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis

Sarov, Mariana, Not, Adeline, de Baulny, Hélène Ogier, Masnou, Pascal, Vahedi, Katayoun, Bousser, Marie-Germaine, Denier, Christian

Journal:

Journal of the Neurological Sciences

Year:

2014

Language:

english

File:

PDF, 234 KB

english, 2014

33

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

Pichard, Samia, Mercati, Oriane, Bouchereau, Juliette, Ouachee, Marie, Froissart, Roseline, Fenneteau, Odile, Roche, Bastien, Elmaleh, Monique, Bertrand, Yves, De Baulny, Hélène Ogier, Vanier, Marie T

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 75 KB

english, 2018

34

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

35

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

36

Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra

Baruteau, Julien, de Baulny, Hélène Ogier

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2011

Language:

english

File:

PDF, 83 KB

english, 2011

37

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

Aure, K., Ogier de Baulny, H., Laforet, P., Jardel, C., Eymard, B., Lombes, A.

Journal:

Year:

2007

Language:

english

File:

PDF, 324 KB

english, 2007

38

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

39

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

40

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

41

Particularités physiopathologiques et thérapeutiques des acidoses métaboliques liées aux erreurs innées du métabolisme

H. Ogier de Baulny

Journal:

Réanimation Urgences

Year:

1999

File:

PDF, 388 KB

1999

42

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

43

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

44

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

45

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

46

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

47

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

48

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

Mercati, Oriane, Pichard, Samia, Ouachée, Marie, Froissart, Roseline, Fenneteau, Odile, Roche, Bastien, Elmaleh-Bergès, Monique, Bertrand, Yves, Ogier de Baulny, Hélène, Vanier, Marie T., Schiff, Manu

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 838 KB

english, 2017

49

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

50

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

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