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Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

American journal of transplantation, 2015-03, Vol.15 (3), p.786-791

2015

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Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.85-94

2017

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Syndrome myogène et acidose métabolique, penser au déficit multiple en acyl-coenzyme A déshydrogénase

Médecine intensive réanimation, 2019-11, Vol.28 (6), p.456

2019

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Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

The journal of clinical endocrinology and metabolism, 2011-12, Vol.96 (12), p.3785-3793

2011

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Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

Journal of Medical Genetics, 2014-07, Vol.51 (7), p.429-435

2014

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Acute Psychosis in Propionic Acidemia: 2 Case Reports

Journal of child neurology, 2014-02, Vol.29 (2), p.274-279

2014

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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

Molecular genetics and metabolism, 2015-03, Vol.2 (C), p.25-31

2015

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The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

Biochimica et biophysica acta, 2009-09, Vol.1792 (9), p.841-843

2009

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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

Clinical genetics, 2015-05, Vol.87 (5), p.448-454

2015

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082 Des mutations identifiées dans le syndrome d’hyperinsulinisme congénital soulignent l’importance de GLUT2 dans le pancréas humain

Diabetes & metabolism, 2012-03, Vol.38, p.A20-A20

2012

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Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4941-4947

2008

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Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

JIMD Reports, Volume 31, 2017-01, Vol.31, p.85-93

2017

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Trastornos congénitos de la glucosilación de las glucoproteínas séricas

EMC - Pediatría, 2020-03, Vol.55 (1), p.1-8

2020

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Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

The EMBO journal, 2019-01, Vol.38 (1)

2019

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Clinical phenotype associated with TANGO2 gene mutation

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2021-01, Vol.28 (1), p.80-86

2021

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Metabolic emergencies: diagnostic algorithm of lactic acidosis

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2009-06, Vol.16 (6), p.637-639

2009

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Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

Case Reports in Critical Care, 2019, Vol.2019 (2019), p.1-7

2019

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O62 Évolution de la glycémie chez 105 patients opérés pour un hyperinsulinisme congénital persistant

Diabetes & metabolism, 2009, Vol.35, p.A16-A16

2009

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Diagnostic and therapeutic management of inherited metabolic diseases in emergency and intensive care unit

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 (6), p.947-948

2010

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An Activating Mutation of AKT2 and Human Hypoglycemia

Science (American Association for the Advancement of Science), 2011-10, Vol.334 (6055), p.474-474

2011

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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107674-107674, Article 107674

2023

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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

Human molecular genetics, 2014-04, Vol.23 (8), p.2106-2119

2014

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Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

Pediatrics (Evanston), 2005-11, Vol.116 (5), p.1170-1177

2005

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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy

Journal of pediatric surgery, 2004-03, Vol.39 (3), p.267-269

2004

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Panorama étiologique et génétique de l’hyperammoniémie chez l’adulte : une étude rétrospective bi-centrique française

La revue de medecine interne, 2024-06, Vol.45, p.A93-A93

2024

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Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients

Syndrome myogène et acidose métabolique, penser au déficit multiple en acyl-coenzyme A déshydrogénase

Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

Acute Psychosis in Propionic Acidemia: 2 Case Reports

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism

082 Des mutations identifiées dans le syndrome d’hyperinsulinisme congénital soulignent l’importance de GLUT2 dans le pancréas humain

Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Trastornos congénitos de la glucosilación de las glucoproteínas séricas

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

Clinical phenotype associated with TANGO2 gene mutation

Metabolic emergencies: diagnostic algorithm of lactic acidosis

Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

O62 Évolution de la glycémie chez 105 patients opérés pour un hyperinsulinisme congénital persistant

Diagnostic and therapeutic management of inherited metabolic diseases in emergency and intensive care unit

An Activating Mutation of AKT2 and Human Hypoglycemia

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

The surgical management of congenital hyperinsulinemic hypoglycemia in infancy

Panorama étiologique et génétique de l’hyperammoniémie chez l’adulte : une étude rétrospective bi-centrique française

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