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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1192-1230

2019

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Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria

Journal of inherited metabolic disease, 2023-05, Vol.46 (3), p.466-481

2023

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.566-592

2021

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Maple Syrup Urine Disease and Domino Liver Transplantation: When and How?

Liver transplantation, 2019-06, Vol.25 (6), p.827-828

2019

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.21-48

2017

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Cobalamin C defect: natural history, pathophysiology, and treatment

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.127-135

2011

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Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.593-605

2021

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Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1173-1185

2020

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Obituary for Claude Bachmann, MD (1941–2022)

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.657-658

2022

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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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Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in phenylketonuria

Pharmacological research, 2023-11, Vol.197, p.106952-106952, Article 106952

2023

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Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1147-1161

2019

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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Epilepsia (Copenhagen), 2023-06, Vol.64 (6), p.1612-1626

2023

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Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

Human mutation, 2021-06, Vol.42 (6), p.699-710

2021

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Neurologic outcome following liver transplantation for methylmalonic aciduria

Journal of inherited metabolic disease, 2023-05, Vol.46 (3), p.450-465

2023

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Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.554-572

2023

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Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.705-717

2021

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Second edition, 2022

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Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

Pediatric transplantation, 2022-09, Vol.26 (6), p.e14318-n/a

2022

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Chronic liver involvement in urea cycle disorders

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1118-1127

2019

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Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

Neuroradiology, 2020-10, Vol.62 (10), p.1315-1321

2020

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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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Early neurodevelopmental characterization in children with cobalamin C/defect

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.367-374

2020

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.401-414

2021

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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Frontiers in neurology, 2019-02, Vol.10, p.131-131

2019

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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Maple Syrup Urine Disease and Domino Liver Transplantation: When and How?

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Cobalamin C defect: natural history, pathophysiology, and treatment

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia

Obituary for Claude Bachmann, MD (1941–2022)

Recommendations for the management of tyrosinaemia type 1

Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in phenylketonuria

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

Neurologic outcome following liver transplantation for methylmalonic aciduria

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure

Chronic liver involvement in urea cycle disorders

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

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

Early neurodevelopmental characterization in children with cobalamin C/defect

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

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