H. O. Baulny

发表

Methylmalonic and propionic acidaemias: Management and outcome

D. Rabier, J. Saudubray, G. Touati, 2005, Journal of Inherited Metabolic Disease.

A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings

I. Sfaello, T. Dupré, G. Durand, 2006, Pediatric Research.

Functional characterization of novel mutations in the human cytochrome b gene

P. Laforêt, P. Frachon, C. Jardel, 2001, European Journal of Human Genetics.

Hyperphenylalaninemia with a peripherical deficiency of the synthesis of tetrahydrobiopterin: therapeutic approach

F. Brion, A. Rieutord, J. Benoist, 2006 .

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

N. Romero, M. Fardeau, P. Frachon, 2001 .

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children

N. Romero, M. Fardeau, A. Lombès, 2005, Histochemistry and Cell Biology.

Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

A. Macdonald, M. Cleary, F. Feillet, 2006, European Journal of Clinical Nutrition.

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

P. Masnou, K. Vahedi, M. Bousser, 2014, Journal of Neurological Sciences.

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

H. O. Baulny, 2002 .

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

J. Sarles, M. Rolland, G. Touati, 2008, Journal of Inherited Metabolic Disease.

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

A. Munnich, P. Rustin, A. Rötig, 2001, Nature Genetics.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Branched-chain Organic Acidurias /Acidaemias

C. Dionisi-Vici, U. Wendel, Udo Wendel, 2012 .

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

A. Couvineau, F. Mattioli, M. Schiff, 2018, Pediatric Research.

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

J. Elion, A. Aydın, I. Callebaut, 2001, European Journal of Human Genetics.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Minimum Protein Requirements in Infancy and Childhood : Insights from Patients with Protein-Restricted Diets

M. Giraud, H. O. Baulny, E. Depondt, 2006 .

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

D. Grabli, M. Giroud, F. Sedel, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

P. Bénit, P. Rustin, S. Loublier, 2009, Journal of Inherited Metabolic Disease.

[Should a metabolic work-up be performed in autism?].

J. Benoist, R. Delorme, H. O. Baulny, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism

A. Superti-Furga, H. O. Baulny, 2006 .

Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn

N. Romero, G. Touati, P. Frachon, 1996, Journal of Inherited Metabolic Disease.