A. Brassier

发表

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

J. Stirnemann, N. Belmatoug, F. Camou, 2017, International journal of molecular sciences.

Congenital hyperinsulinism: current trends in diagnosis and therapy

F. Brunelle, C. Bellanné-Chantelot, Y. Aigrain, 2011, Orphanet journal of rare diseases.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

P. de Lonlay, A. Brassier, N. Bahi-Buisson, 2019, Molecular genetics and metabolism.

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

F. Bienaimé, A. Servais, P. de Lonlay, 2021, Orphanet Journal of Rare Diseases.

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error

P. de Lonlay, A. Brassier, S. Renolleau, 2020, JIMD reports.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease

I. Durieu, B. Hivert, J. Stirnemann, 2020, Journal of clinical medicine.

High glucose intake and glycaemic level in critically ill neonates with inherited metabolic disorders of intoxication

A. Brassier, P. Lonlay, J. Arnoux, 2016, European Journal of Pediatrics.

Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing

L. Ouss, N. Bouchemal, L. Le Moyec, 2019, Orphanet journal of rare diseases.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

P. de Lonlay, A. Brassier, N. Bahi-Buisson, 2018, JIMD reports.

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

S. Marret, P. de Lonlay, A. Brassier, 2017, Clinica chimica acta; international journal of clinical chemistry.

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study

A. Servais, P. de Lonlay, A. Brassier, 2022, Orphanet Journal of Rare Diseases.

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

N. Boddaert, A. Kaminska, B. Chadefaux-Vekemans, 2020, Molecular genetics and metabolism.

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

P. de Lonlay, A. Brassier, J. Arnoux, 2021, Orphanet Journal of Rare Diseases.

Individual and family determinants for quality of life in parents of children with inborn errors of metabolism requiring a restricted diet: a multilevel analysis approach.

P. Auquier, N. Resseguier, P. de Lonlay, 2022, The Journal of pediatrics.

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

N. Boddaert, R. Barouki, L. Le Moyec, 2014, Molecular genetics and metabolism reports.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

D. Rizopoulos, T. Mongini, M. Kruijshaar, 2021, The Lancet. Child & adolescent health.

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

A. Brassier, S. Fecarotta, S. Vijay, 2020, Orphanet Journal of Rare Diseases.

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

C. Sardet, N. Boddaert, P. de Lonlay, 2014, Mitochondrion.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

R. Barouki, A. Servais, P. de Lonlay, 2015, Orphanet Journal of Rare Diseases.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

F. Lamari, A. Brassier, D. Bremond-Gignac, 2022, Orphanet journal of rare diseases.

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

A. Laquérriere, P. de Lonlay, J. Bergounioux, 2012, The Journal of pediatrics.

[Enzyme replacement therapy for lysosomal storage disorders].

A. Chabli, P. de Lonlay, A. Brassier, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

G. Chatellier, N. Belmatoug, A. Brassier, 2021, Orphanet Journal of Rare Diseases.

Clinical and biochemical heterogeneity associated with fumarase deficiency

A. Munnich, N. Boddaert, T. Frebourg, 2011, Human mutation.

Autism spectrum disorders in propionic acidemia patients

L. Ouss, A. Brassier, J. Bonnefont, 2018, Journal of Inherited Metabolic Disease.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

R. Barouki, B. Chadefaux-Vekemans, P. de Lonlay, 2015, JIMD reports.

[Prenatal symptoms and diagnosis of inherited metabolic diseases].

N. Boddaert, P. Sonigo, B. Chadefaux-Vekemans, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up

P. de Lonlay, G. Touati, A. Brassier, 2021, Journal of inherited metabolic disease.

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

A. Brassier, P. Lonlay, P. Thérond, 2015, Journal of Inherited Metabolic Disease.

Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

R. Lachmann, A. Servais, P. de Lonlay, 2022, Journal of inherited metabolic disease.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

N. Boddaert, S. Pannier, D. Lacombe, 2022, Bone Marrow Transplantation.

Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion

B. Chevallier, A. Brassier, N. Guffon, 2019, European Journal of Pediatrics.

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

B. Daignan-Fornier, A. Brassier, I. Ceballos-Picot, 2015, Orphanet Journal of Rare Diseases.

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

C. Elie, P. de Lonlay, A. Brassier, 2016, Orphanet Journal of Rare Diseases.

Acute Psychosis in Propionic Acidemia

G. Touati, A. Brassier, C. Ottolenghi, 2014, Journal of child neurology.

Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis.

S. Marret, P. de Lonlay, A. Brassier, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

A. Servais, P. de Lonlay, B. Pigneur, 2020, Molecular genetics and metabolism reports.

Two new cases of serine deficiency disorders treated with l-serine.

N. Boddaert, A. Kaminska, I. Desguerre, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

R. Salomon, A. Servais, P. de Lonlay, 2017, Human pathology.

Large-Scale Screening of Lipase Acid Deficiency in at Risk Population.

V. de Lédinghen, M. Krempf, D. Ouzan, 2021, Clinica chimica acta; international journal of clinical chemistry.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

A. Servais, G. Touati, A. Brassier, 2021, Molecular genetics and metabolism reports.

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

B. Chadefaux-Vekemans, A. Servais, P. de Lonlay, 2017, Journal of Inherited Metabolic Disease.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

G. Pinto, A. Servais, P. de Lonlay, 2017, Orphanet Journal of Rare Diseases.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

J. Gargus, S. Eckert, A. Brassier, 2017, Orphanet Journal of Rare Diseases.

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

J. Gargus, A. Brassier, V. Valayannopoulos, 2016 .

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

J. Gargus, S. Eckert, A. Brassier, 2015 .

Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

A. Brassier, S. Fecarotta, S. Vijay, 2021, Orphanet Journal of Rare Diseases.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

C. Marelli, P. Gissen, Ç. Kasapkara, 2022, Life.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

D. Rabier, P. de Lonlay, A. Brassier, 2013, Molecular genetics and metabolism.

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

R. Salomon, F. Mochel, Y. Aigrain, 2020, Journal of inherited metabolic disease.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

R. Salomon, D. Rabier, Y. Aigrain, 2013, Molecular genetics and metabolism.

Successful treatment of congenital hyperinsulinism with long-acting release octreotide.

J. Thalabard, A. Mamoune, C. Bellanné-Chantelot, 2012, European journal of endocrinology.

Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.

P. de Lonlay, L. Galmiche, A. Brassier, 2015, JIMD reports.

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

R. Borie, A. Brassier, C. Lavigne, 2022, Journal of clinical medicine.

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, A. Rötig, C. Bole-Feysot, 2012, Molecular genetics and metabolism.

Sleep‐disordered breathing in children with mucolipidosis

V. Cormier-Daire, C. Caillaud, A. Brassier, 2019, American journal of medical genetics. Part A.

What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.

P. de Lonlay, A. Brassier, S. Renolleau, 2022, Molecular genetics and metabolism.

A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France.

A. Brassier, M. Schiff, B. Héron, 2022, The Journal of pediatrics.

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

R. Posset, A. Servais, P. de Lonlay, 2021, JIMD reports.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Y. Chien, A. Broomfield, A. Brassier, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane® (Sodium Phenylbutyrate) Taste-Masked Granules

A. Brassier, M. Barth, N. Guffon, 2014, Pediatric Drugs.

Unusual muscular injury in an infant with severe H1N1 infection.

N. Boddaert, I. Desguerre, A. Brassier, 2012, Pediatric neurology.

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

P. Auquier, N. Resseguier, P. de Lonlay, 2021, The Journal of pediatrics.

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

D. Hamroun, B. Fantin, J. Stirnemann, 2020, International journal of molecular sciences.

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

P. Auquier, N. Resseguier, P. de Lonlay, 2020, Jornal de Pediatria.

Disorders of Branched-Chain Amino Acid Metabolism

J. Vockley, A. Brassier, M. Schiff, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Short running title: "Hyperinsulinism treated with LAR octreotide"

A. Mamoune, A. Brassier, J. Arnoux, 2011 .

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

A. Imbard, P. de Lonlay, A. Brassier, 2022, Molecular genetics and metabolism reports.

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria

A. Servais, P. de Lonlay, L. Ranganath, 2015, Journal of Inherited Metabolic Disease.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

P. Latour, T. Levade, A. Brassier, 2017, Orphanet Journal of Rare Diseases.

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

N. Boddaert, A. Kaminska, A. Harroche, 2023, Molecular genetics and metabolism.

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

F. Rivier, J. Lefranc, G. Touati, 2023, European journal of neurology.

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

A. Brassier, V. Valayannopoulos, G. Grabowski, 2017, Molecular genetics and metabolism.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

C. Barnérias, I. Desguerre, M. Hully, 2023, Molecular genetics and metabolism.

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients

P. de Lonlay, A. Brassier, S. Renolleau, 2023, Journal of inherited metabolic disease.

Neurocognitive profiles in MSUD school-age patients

G. Touati, A. Brassier, A. Cano, 2017, Journal of Inherited Metabolic Disease.

Two new cases of serine deficiency disorders treated with l-serine.

E. Schaftingen, A. Brassier, V. Valayannopoulos, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[Enzyme replacement therapy for lysosomal storage disorders].

A. Chabli, A. Brassier, J. Arnoux, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

A. Laquérriere, P. de Lonlay, J. Bergounioux, 2012, The Journal of pediatrics.

Type 3 Gaucher disease, diagnostic in adulthood

J. Stirnemann, N. Belmatoug, A. Brassier, 2017, Molecular genetics and metabolism reports.

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

A. Brassier, M. Aubart, Charles-Joris Roux, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

A. Rötig, P. de Lonlay, A. Brassier, 2023, Journal of inherited metabolic disease.