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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797

2016

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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

American journal of human genetics, 2008-03, Vol.82 (3), p.623-630

2008

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

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.795-803

2013

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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Pediatric research, 2019-02, Vol.85 (3), p.384-389

2019

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Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

Journal of hepatology, 2016-08, Vol.65 (2), p.377-385

2016

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

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.540-548

2020

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Adult-Onset Eculizumab-Resistant Hemolytic Uremic Syndrome Associated With Cobalamin C Deficiency

American journal of kidney diseases, 2014-01, Vol.63 (1), p.119-123

2014

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

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1516-1524

2007

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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.107-107, Article 107

2014

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

American journal of human genetics, 2013-08, Vol.93 (2), p.384-389

2013

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

Journal of inherited metabolic disease, 2014, Vol.37 (1), p.137-139

2014

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Nature genetics, 2001-09, Vol.29 (1), p.57-60

2001

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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

American journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.58-68

2011

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Recommendations for the management of tyrosinaemia type 1

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.8-8, Article 8

2013

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

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.415-422

2017

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Management of Phenylketonuria and Hyperphenylalaninemia

The Journal of nutrition, 2007-06, Vol.137 (6S), p.1561S-1563S

2007

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

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.823-829

2012

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Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.993-999

2012

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Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition

Clinical nutrition (Edinburgh, Scotland), 2016-12, Vol.35 (6), p.1414-1422

2016

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

Molecular genetics and metabolism reports, 2019-09, Vol.20, p.100498, Article 100498

2019

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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.8-10

2016

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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.36-36

2012

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

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.12-17

2012

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Human mutation, 2010-07, Vol.31 (7), p.E1564-E1573

2010

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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

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

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

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

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

Adult-Onset Eculizumab-Resistant Hemolytic Uremic Syndrome Associated With Cobalamin C Deficiency

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

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

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

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

Recommendations for the management of tyrosinaemia type 1

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

Management of Phenylketonuria and Hyperphenylalaninemia

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

Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition

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

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

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

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

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