Publications by authors named "Helene Ogier de Baulny"

51Publications

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

Mol Genet Metab Rep 2019 Sep 25;20:100498. Epub 2019 Jul 25.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France.

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September 2019

Long-term liver disease in methylmalonic and propionic acidemias.

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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April 2018

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

Eur J Paediatr Neurol 2017 Nov 29;21(6):907-911. Epub 2017 Jul 29.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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November 2017

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

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June 2016

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

J Hepatol 2016 08 2;65(2):377-85. Epub 2016 May 2.

Inserm UMR 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Institut Cochin, Paris, France; Université Paris V René Descartes, Institut Cochin, Paris, France. Electronic address:

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August 2016

High homocysteine induces betaine depletion.

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

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April 2015

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

J Neurol Sci 2014 Jan 11;336(1-2):257-9. Epub 2013 Oct 11.

Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France; INSERM U788, Le Kremlin-Bicêtre, France. Electronic address:

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January 2014

Recommendations for the management of tyrosinaemia type 1.

Orphanet J Rare Dis 2013 Jan 11;8. Epub 2013 Jan 11.

Nutrition and Metabolism Unit, Department of Pediatrics, University Children’s Hospital Queen Fabiola, Brussels, Belgium.

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January 2013

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

J Inherit Metab Dis 2013 Sep 3;36(5):795-803. Epub 2012 Oct 3.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France.

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September 2013

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

Mol Genet Metab 2012 May 17;106(1):12-7. Epub 2012 Feb 17.

APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, F-75019 Paris, France.

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May 2012

Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra.

J Pediatr Endocrinol Metab 2011 ;24(5-6):249

Department of Pediatric Neurology and Metabolic Diseases, Robert Debré Hospital, Paris, France.

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August 2011

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

Semin Fetal Neonatal Med 2011 Aug 24;16(4):216-21. Epub 2011 May 24.

APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, F-75019 Paris, France.

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August 2011

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

Mol Genet Metab 2011 Apr 16;102(4):413-7. Epub 2010 Dec 16.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.

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April 2011

Isolated remethylation disorders: do our treatments benefit patients?

J Inherit Metab Dis 2011 Feb 21;34(1):137-45. Epub 2010 May 21.

Reference Center for Metabolic Disease, Robert Debré University Hospital, Paris, France.

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February 2011

Should transcobalamin deficiency be treated aggressively?

J Inherit Metab Dis 2010 Jun 30;33(3):223-9. Epub 2010 Mar 30.

Service de Neuropédiatrie & Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debré, APHP, Paris, France.

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June 2010

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

Mol Genet Metab 2009 Apr 22;96(4):196-200. Epub 2009 Jan 22.

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin-Bicêtre Cedex, France.

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April 2009

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Am J Hum Genet 2008 Mar;82(3):623-30

INSERM U781 and Department of Genetics, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France.

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March 2008

Management of phenylketonuria and hyperphenylalaninemia.

J Nutr 2007 06;137(6 Suppl 1):1561S-1563S; discussion 1573S-1575S

Service de Neurologie et Maladies Métaboliques, Hôpital R. Debré, Assistance Publique des Hôpitaux de Paris, 75019 Paris, France.

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June 2007

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

Ann Neurol 2006 Apr;59(4):709-14

Service de Neuropédiatrie et Maladies métaboliques, Hôpital Robert Debré, Paris, France.

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April 2006

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.

Eur J Pediatr 2006 Jun 8;165(6):389-91. Epub 2006 Mar 8.

Groupement de Médecine Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37 044 Tours, Cedex 1, France.

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June 2006

D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion?

Hum Genet 2002 May 11;110(5):479-87. Epub 2002 Apr 11.

INSERM UR523, Institut de Myologie, Hôpital de La Salpêtrière, 75651 Paris cedex 13, France.

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May 2002

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

Semin Neonatol 2002 Feb;7(1):17-26

Neurology and Metabolic Diseases Unit, Hôpital Robert Debré, Paris, France.

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February 2002