Kolexia
Slama Abdelhamid Pharmacien
Slama Abdelhamid
Pharmacien
Hôpital Bicêtre
Le Kremlin-Bicêtre, France
61 Activités
4 Followers
Scientifique
Digital
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Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Prédisposition génétique à une maladie Carcinomes Maladies du foie Accident vasculaire cérébral Acidose lactique Tumeurs de l'utérus Néphrocarcinome Léiomyomatose

Collaborateurs

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Gaignard Pauline
Gaignard Pauline
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Therond Patrice
Therond Patrice
Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Jardel Claude
Jardel Claude
Hôpital Pitie Salpetriere, Paris, France
Schiff Manuel
Schiff Manuel
Hôpital Necker Enfants Malades, Paris, France

Industries

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Dernières activités

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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain : a journal of neurology   03 mars 2023
Association of the CAG repeat polymorphism in mitochondrial polymerase gamma (POLG1) with male infertility: a case-control study in an Algerian population.
African journal of reproductive health   16 juin 2021
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Molecular genetics and metabolism   28 novembre 2020
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Molecular genetics and metabolism   09 septembre 2020
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   04 mars 2020
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Human mutation   11 novembre 2019
Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke.
Journal of neuroendocrinology   16 octobre 2019
Multiple mitochondrial DNA deletions due to mtDNA-maintenance defects are identified by next generation sequencing of the mitochondrial genome through eKLIPse
Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference   01 octobre 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology (Baltimore, Md.)   16 mai 2019
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.
Revue neurologique   01 mai 2019