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Papers authored by Ogier De Baulny H

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[Mitochondrial neurogastrointestinal encephalomyopathy].

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

Journal of neuroradiology. Journal de neuroradiologie 35(2):121-4, 2008 May - Who cited this? | PubMed ID: 17904638 | Fulltext

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

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Auré K, Ogier de Baulny H, Laforêt P, Jardel C, Eymard B, and Lombès A

Brain : a journal of neurology 130(Pt 6):1516-24, 2007 Jun - Who cited this? | PubMed ID: 17439982 | Fulltext

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

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Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, and Ogier de Baulny H

Annals of neurology 59(4):709-14, 2006 Apr - Who cited this? | PubMed ID: 16566017 | Fulltext

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

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Touati G, Valayannopoulos V, Mention K, de Lonlay P, Jouvet P, Depondt E, Assoun M, Souberbielle JC, Rabier D, Ogier de Baulny H, and Saudubray JM

Journal of inherited metabolic disease 29(2-3):288-98, 2006 - Who cited this? | PubMed ID: 16763890 | Fulltext

[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].

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Abadie V, Berthelot J, Feillet F, Maurin N, Mercier A, Ogier de Baulny H, de Parscau L, and Association française pour le dépistage et la prévention des handicaps de l'enfant (AFDPHE)

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 12(5):594-601, 2005 May - Who cited this? | PubMed ID: 15885553 | Fulltext

Progression despite replacement of a myopathic form of coenzyme Q10 defect.

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Auré K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, and Lombès A

Neurology 63(4):727-9, 2004 Aug 24 - Who cited this? | PubMed ID: 15326254 | Fulltext

Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition.

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Thauvin-Robinet C, Faivre L, Barbier ML, Chevret L, Bourgeois J, Netter JC, Grimaldi M, Geneviève D, Ogier de Baulny H, Huet F, Saudubray JM, and Gouyon JB

Journal of inherited metabolic disease 27(5):700-4, 2004 - Who cited this? | PubMed ID: 15669689 | Fulltext

Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.

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Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, and Bolgert F

Archives of neurology 60(10):1457-62, 2003 Oct - Who cited this? | PubMed ID: 14568819 | Fulltext

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.

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Chantret I, Dancourt J, Dupré T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, and Moore SE

The Journal of biological chemistry 278(11):9962-71, 2003 Mar 14 - Who cited this? | PubMed ID: 12480927 | Fulltext

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio in children: age-related reference intervals.

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Benoist JF, Alberti C, Leclercq S, Rigal O, Jean-Louis R, Ogier de Baulny H, Porquet D, and Biou D

Clinical chemistry 49(3):487-94, 2003 Mar - Who cited this? | PubMed ID: 12600962 | Fulltext

[Hematologic manifestations of inborn errors of metabolism].

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 9(8):822-35, 2002 Aug - Who cited this? | PubMed ID: 12205794 | Fulltext

Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism.

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Ogier de Baulny H

Seminars in neonatology : SN 7(1):17-26, 2002 Feb - Who cited this? | PubMed ID: 12069535 | Fulltext

Branched-chain organic acidurias.

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Ogier de Baulny H and Saudubray JM

Seminars in neonatology : SN 7(1):65-74, 2002 Feb - Who cited this? | PubMed ID: 12069539 | Fulltext

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations.

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Legras A, Labarthe F, Maillot F, Garrigue MA, Kouatchet A, and Ogier de Baulny H

Critical care medicine 30(1):241-4, 2002 Jan - Who cited this? | PubMed ID: 11902270 | Fulltext

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

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Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, and Elion J

European journal of human genetics : EJHG 9(8):577-82, 2001 Aug - Who cited this? | PubMed ID: 11528502 | Fulltext

Functional characterization of novel mutations in the human cytochrome b gene.

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Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforêt P, Jardel C, Godinot C, and Lombès A

European journal of human genetics : EJHG 9(7):510-8, 2001 Jul - Who cited this? | PubMed ID: 11464242 | Fulltext

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

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Barthélémy C, Ogier de Baulny H, Diaz J, Cheval MA, Frachon P, Romero N, Goutieres F, Fardeau M, and Lombès A

Annals of neurology 49(5):607-17, 2001 May - Who cited this? | PubMed ID: 11357951 | Fulltext

Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

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Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, and Elion J

Molecular genetics and metabolism 72(2):181-4, 2001 Feb - Who cited this? | PubMed ID: 11161845 | Fulltext

[Severe lactic acidosis disease disclosing milk-protein intolerance to cows' milk].

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Rizk C, Valdes L, Ogier de Baulny H, Saudubray JM, and Olivier C

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 6(4):427-9, 1999 Apr - Who cited this? | PubMed ID: 10230483 | Fulltext

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

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Touma E, Suormala T, Baumgartner ER, Gerbaka B, Ogier de Baulny H, and Loiselet J

Journal of inherited metabolic disease 22(2):115-22, 1999 Apr - Who cited this? | PubMed ID: 10234606 | Fulltext

[Extensive Mongolian spot related to Hurler disease].

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Rybojad M, Moraillon I, Ogier de Baulny H, Prigent F, and Morel P

Annales de dermatologie et de venereologie 126(1):35-7, 1999 Jan - Who cited this? | PubMed ID: 10095889 | Fulltext

[Diagnosis of states of ketosis in pediatrics].

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Ogier de Baulny H, Husson I, Castelnau P, and Saudubray JM

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 6 Suppl 2:500s-501s, 1999 - Who cited this? | PubMed ID: 10370586 | Fulltext

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

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

European journal of pediatrics 157(8):628-33, 1998 Aug - Who cited this? | PubMed ID: 9727845 | Fulltext

Remethylation defects: guidelines for clinical diagnosis and treatment.

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Ogier de Baulny H, Gérard M, Saudubray JM, and Zittoun J

European journal of pediatrics 157 Suppl 2:S77-83, 1998 Apr - Who cited this? | PubMed ID: 9587031 | Fulltext

In vivo functional investigations of lactic acid in patients with respiratory chain disorders.

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Touati G, Rigal O, Lombès A, Frachon P, Giraud M, and Ogier de Baulny H

Archives of disease in childhood 76(1):16-21, 1997 Jan - Who cited this? | PubMed ID: 9059154 | Fulltext

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 3(9):877-80, 1996 Sep - Who cited this? | PubMed ID: 8949349 | Fulltext

[Pregnancy and the child of a mother with phenylketonuria].

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Abadie V, Depondt E, Farriaux JP, Lepercq J, Lyonnet S, Maurin N, Ogier de Baulny H, and Vidailhet M

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 3(5):489-6, 1996 May - Who cited this? | PubMed ID: 8763723 | Fulltext

[Protein glycosylation deficiency: clinical presentation].

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 3 Suppl 1:158s-160s, 1996 - Who cited this? | PubMed ID: 8796001 | Fulltext

[Inborn errors of GABA metabolism].

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Divry P and Ogier de Baulny H

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 3 Suppl 1:169s-171s, 1996 - Who cited this? | PubMed ID: 8796005 | Fulltext

[Clinical synthesis and investigation protocol: "extrapyramidal" signs, clinical orientation].

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 3 Suppl 1:176s-178s, 1996 - Who cited this? | PubMed ID: 8796007 | Fulltext

Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

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Lombes A, Romero NB, Touati G, Frachon P, Cheval MA, Giraud M, Simon D, and Ogier de Baulny H

Journal of inherited metabolic disease 19(3):286-95, 1996 - Who cited this? | PubMed ID: 8803770 | Fulltext

Morphological studies of skeletal muscle in lactic acidosis.

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Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, and Ogier de Baulny H

Journal of inherited metabolic disease 19(4):528-34, 1996 - Who cited this? | PubMed ID: 8884576 | Fulltext

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

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Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, and Brivet M

The Journal of pediatrics 127(5):723-8, 1995 Nov - Who cited this? | PubMed ID: 7472823 | Fulltext

Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children.

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Possekel S, Lombes A, Ogier de Baulny H, Cheval MA, Fardeau M, Kadenbach B, and Romero NB

Histochemistry and cell biology 103(1):59-68, 1995 Jan - Who cited this? | PubMed ID: 7736281 | Fulltext

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