Manuel Schiff

Summary

Country: France

Publications

  1. doi request reprint Treatment of inherited homocystinurias
    Manuel Schiff
    Reference Center for Inherited Metabolic Diseases, APHP and Inserm U676, Hopital Robert Debre, Paris, France
    Neuropediatrics 43:295-304. 2012
  2. doi request reprint Early-onset hyperargininaemia: a severe disorder?
    M Schiff
    Centre de référence Maladies Métaboliques, Hopital Robert Debre, APHP, Paris, France
    J Inherit Metab Dis 32:S175-8. 2009
  3. doi request reprint Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
    Manuel Schiff
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, 75019 Paris, France
    J Inherit Metab Dis 35:823-9. 2012
  4. pmc Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
    Manuel Schiff
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, Paris, France
    PLoS ONE 6:e21932. 2011
  5. doi request reprint Mitochondrial response to controlled nutrition in health and disease
    Manuel Schiff
    Centre de référence Maladies Métaboliques, Hopital Robert Debre, APHP, Universite Paris 7, Faculté de Médecine Denis Diderot, IFR02, INSERM, U676, Paris, France
    Nutr Rev 69:65-75. 2011
  6. doi request reprint Isolated remethylation disorders: do our treatments benefit patients?
    Manuel Schiff
    Reference Center for Metabolic Disease, Robert Debre University Hospital, Paris, France
    J Inherit Metab Dis 34:137-45. 2011
  7. ncbi request reprint Leigh's disease due to a new mutation in the PDHX gene
    Manuel Schiff
    Service de Neuropédiatrie et Maladies Métaboliques, Hopital Robert Debre, Paris, France
    Ann Neurol 59:709-14. 2006
  8. doi request reprint Should transcobalamin deficiency be treated aggressively?
    Manuel Schiff
    Service de Neuropédiatrie and Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debre, APHP, Paris, France
    J Inherit Metab Dis 33:223-9. 2010
  9. pmc Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice
    Manuel Schiff
    INSERM, U676, Paris, France
    PLoS ONE 6:e28823. 2011
  10. doi request reprint Therapies in inborn errors of oxidative metabolism
    Manuel Schiff
    Institut National de la Santé et de la Recherche Médicale Unité 676, Hopital Robert Debre, F 75019 Paris, France
    Trends Endocrinol Metab 23:488-95. 2012

Collaborators

Detail Information

Publications18

  1. doi request reprint Treatment of inherited homocystinurias
    Manuel Schiff
    Reference Center for Inherited Metabolic Diseases, APHP and Inserm U676, Hopital Robert Debre, Paris, France
    Neuropediatrics 43:295-304. 2012
    ....
  2. doi request reprint Early-onset hyperargininaemia: a severe disorder?
    M Schiff
    Centre de référence Maladies Métaboliques, Hopital Robert Debre, APHP, Paris, France
    J Inherit Metab Dis 32:S175-8. 2009
    ..Despite appropriate but delayed treatment, our patient exhibited severe psychomotor delay at age 1 year...
  3. doi request reprint Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
    Manuel Schiff
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, 75019 Paris, France
    J Inherit Metab Dis 35:823-9. 2012
    ..In an attempt to improve long-term management and outcome of patients with HT-1, we proposed follow-up recommendations...
  4. pmc Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
    Manuel Schiff
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, Paris, France
    PLoS ONE 6:e21932. 2011
    ..In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD...
  5. doi request reprint Mitochondrial response to controlled nutrition in health and disease
    Manuel Schiff
    Centre de référence Maladies Métaboliques, Hopital Robert Debre, APHP, Universite Paris 7, Faculté de Médecine Denis Diderot, IFR02, INSERM, U676, Paris, France
    Nutr Rev 69:65-75. 2011
    ..This review presents recent knowledge about the impact of nutritional modulation on mitochondria and lifespan regulation and about the development of potential treatments for mitochondrial dysfunction diseases...
  6. doi request reprint Isolated remethylation disorders: do our treatments benefit patients?
    Manuel Schiff
    Reference Center for Metabolic Disease, Robert Debre University Hospital, Paris, France
    J Inherit Metab Dis 34:137-45. 2011
    ..In contrast, most late-treated patients have severe and irreversible neuromotor impairments. Hematological abnormalities are easily corrected...
  7. ncbi request reprint Leigh's disease due to a new mutation in the PDHX gene
    Manuel Schiff
    Service de Neuropédiatrie et Maladies Métaboliques, Hopital Robert Debre, Paris, France
    Ann Neurol 59:709-14. 2006
    ..To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases...
  8. doi request reprint Should transcobalamin deficiency be treated aggressively?
    Manuel Schiff
    Service de Neuropédiatrie and Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debre, APHP, Paris, France
    J Inherit Metab Dis 33:223-9. 2010
    ..In silico structural analysis showed that these mutations disrupt the Cbl-TC interaction domain and/or the putative transcobalamin-transcobalamin receptor interaction domain...
  9. pmc Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice
    Manuel Schiff
    INSERM, U676, Paris, France
    PLoS ONE 6:e28823. 2011
    ..Our objectives were 1) to determine our ability to evaluate therapeutic options in the Harlequin OXPHOS complex I (CI)-deficient mice, in the context of a mitochondrial disease with human hallmarks and 2) to assess the effects of a HFD...
  10. doi request reprint Therapies in inborn errors of oxidative metabolism
    Manuel Schiff
    Institut National de la Santé et de la Recherche Médicale Unité 676, Hopital Robert Debre, F 75019 Paris, France
    Trends Endocrinol Metab 23:488-95. 2012
    ..In this review present and prospective therapeutic approaches will be discussed on the basis of targets and mechanism of action, but with a broad outlook on their potential applications...
  11. doi request reprint Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development
    Paule Benit
    INSERM, U676, Paris, 75019, France
    Trends Mol Med 16:210-7. 2010
    ..Here, we use data from various models to emphasize the need to preserve genetic diversity when studying mitochondrial disease phenotypes or drug effects...
  12. doi request reprint Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects
    Manuel Schiff
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, F 75019 Paris, France
    Semin Fetal Neonatal Med 16:216-21. 2011
    ..Therapeutic options are limited but standardized diagnostic procedures are mandatory to confirm the OXPHOS defect and to identify its causal mutation, allowing genetic counseling and potential prenatal diagnosis...
  13. doi request reprint Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?
    Julie Sommet
    Department of Paediatric Neurology and Metabolic Diseases, Hopital Robert Debre, APHP, 48 Bd Serurier, 75935, Paris Cedex 19, France
    Pediatr Radiol 40:1417-20. 2010
    ..Such an association is probably not fortuitous and could suggest a pathogenic relationship...
  14. doi request reprint How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
    Amina Boina Abdallah
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, F 75019 Paris, France
    Mol Genet Metab 107:66-71. 2012
    ..This maintenance regime is beneficial because the patients' quality of life improves...
  15. doi request reprint Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder
    Helene Ogier de Baulny
    APHP, Reference Center for Inherited Metabolic Disease, Hopital Robert Debre, F 75019 Paris, France
    Mol Genet Metab 106:12-7. 2012
    ..These results have several therapeutic implications, among which lowering the l-citrulline dosage may be crucial, as excessive citrulline may worsen intracellular arginine accumulation...
  16. doi request reprint Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
    Manuel Schiff
    Department of pediatric neurology and metabolic diseases, APHP Robert DEBRE University Hospital, Paris, France
    Eur J Med Genet 53:303-8. 2010
    ..Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS...
  17. ncbi request reprint A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency
    Manuele Mine
    Centre de Recherches Thérapeutiques en Ophtalmologie, Faculte Necker, France
    Mol Genet Metab 89:106-10. 2006
    ..It is the first time that a non-homologous recombination is reported in the PDHX gene causing pyruvate dehydrogenase complex (PDHc) deficiency...
  18. ncbi request reprint Electron transfer flavoprotein deficiency: functional and molecular aspects
    Manuel Schiff
    Centre de référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Mol Genet Metab 88:153-8. 2006
    ..The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. Nine novel disease-causing ETF mutations are reported...