H. Ogier de Baulny

发表

Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.

F. Bolgert, S. Demeret, D. Gervais, 2003, Archives of neurology.

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

P. Bénit, J. Harper, J. Paulo, 2016, eLife.

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

D. Rabier, M. Gérard, A. Bourillon, 2015, European journal of medical genetics.

A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation*

P. Codogno, O. Danos, R. Oriol, 2003, The Journal of Biological Chemistry.

Early-onset hyperargininaemia: A severe disorder?

M. L. Cardoso, M. Elmaleh‐Bergès, M. Schiff, 2009, Journal of Inherited Metabolic Disease.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

P. Sachs, C. Vianey‐Saban, H. Abdoul, 2013, Journal of Inherited Metabolic Disease.

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

G. Touati, A. Bourillon, M. Elmaleh‐Bergès, 2017, Journal of Inherited Metabolic Disease.

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

N. Romero, M. Fardeau, P. Frachon, 2001, Annals of neurology.

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period

P. Milani, J. Le Gargasson, M. Schiff, 2021, Documenta Ophthalmologica.

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

C. Vianey‐Saban, F. Labarthe, J. Benoist, 2006, European Journal of Pediatrics.

Should transcobalamin deficiency be treated aggressively?

G. Touati, C. Hamel, S. Odent, 2010, Journal of Inherited Metabolic Disease.

Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn

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

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

P. Evrard, M. Schiff, M. Miné, 2006, Annals of neurology.

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

M. Schiff, J. Bouchereau, Yvan Herenger, 2019, Molecular genetics and metabolism reports.

Morphological studies of skeletal muscle in lactic acidosis

N. Romero, G. Touati, M. Fardeau, 1996, Journal of Inherited Metabolic Disease.

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

O. Boespflug-Tanguy, A. Bourillon, C. Jardel, 2016, Molecular genetics and metabolism reports.

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

T. Meitinger, T. Strom, H. Prokisch, 2016, Journal of hepatology.

Isolated remethylation disorders: do our treatments benefit patients?

B. Tilea, M. Schiff, J. Benoist, 2011, Journal of Inherited Metabolic Disease.

Remethylation defects: guidelines for clinical diagnosis and treatment

J. Saudubray, J. Zittoun, H. Ogier de Baulny, 1998, European Journal of Pediatrics.

Branched-chain organic acidurias.

J. Saudubray, H. Ogier de Baulny, H. D. Baulny, 2002, Seminars in neonatology : SN.

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

T. Suormala, E. R. Baumgartner, J. Loiselet, 1999, Journal of Inherited Metabolic Disease.

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

R. Delorme, M. Schiff, J. Benoist, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?

M. Schiff, S. Lebon, O. Fenneteau, 2012, Molecular genetics and metabolism.

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

J. Souberbielle, D. Rabier, J. Saudubray, 2006, Journal of Inherited Metabolic Disease.

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

V. Abadie, F. Feillet, H. Ogier de Baulny, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

D. Turnbull, M. Pourfarzam, M. Brivet, 1995, The Journal of pediatrics.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

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

A. Kouatchet, M. Garrigue, F. Maillot, 2002, Critical care medicine.

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

C. Dionisi-Vici, M. Schiff, H. Ogier de Baulny, 2012, Molecular genetics and metabolism.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

P. Rustin, N. Romero, Malgorzata Rak, 2016, The New England journal of medicine.

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

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

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

G. Touati, O. Fenneteau, M. Duval, 1996, Archives de pédiatrie.

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

C. Alberti, J. Benoist, D. Biou, 2003, Clinical chemistry.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

A. Mégarbané, L. Mourey, A. Verloes, 2015, Orphanet Journal of Rare Diseases.

[Hematologic manifestations of inborn errors of metabolism].

D. Rabier, J. Saudubray, P. de Lonlay, 2002, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

A. Lombès, M. Schiff, H. Ogier de Baulny, 2011, Seminars in fetal & neonatal medicine.

[Extensive Mongolian spot related to Hurler disease].

M. Rybojad, P. Morel, H. Ogier de Baulny, 1999, Annales de dermatologie et de venereologie.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

B. Maranda, A. Novelli, R. Santer, 2019, Journal of inherited metabolic disease.

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

Y. Bertrand, R. Froissart, M. Schiff, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

P. Sachs, H. Abdoul, J. Baruteau, 2014, Journal of Inherited Metabolic Disease.

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

P. Czernichow, F. Brunelle, J. Saudubray, 1998, European Journal of Pediatrics.

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

P. Laforêt, B. Eymard, C. Jardel, 2007, Brain : a journal of neurology.

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

L. Servais, A. Slama, M. Schiff, 2016, JIMD reports.

[Sjögren-Larsson syndrome: 2 case reports].

R. Wanders, M. Schiff, J. Baruteau, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

L. Faivre, C. Thauvin-Robinet, J. Saudubray, 2004, Journal of Inherited Metabolic Disease.

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

J. Elion, A. Aydın, I. Callebaut, 2001, European journal of human genetics : EJHG.

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

J. Sarles, B. Chabrol, M. Schiff, 2012, Journal of Inherited Metabolic Disease.

Maternal and fetal tyrosinemia type I

A. Imbard, J. Benoist, N. García Segarra, 2010, Journal of Inherited Metabolic Disease.

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

J. Elion, I. Callebaut, J. Mornon, 2001, Molecular genetics and metabolism.