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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522

2015

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Parkinsonism and inborn errors of metabolism

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.627-642

2014

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Energy metabolism in childhood neurodevelopmental disorders

EBioMedicine, 2021-07, Vol.69, p.103474-103474, Article 103474

2021

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Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Molecular genetics and metabolism, 2013-08, Vol.109 (4), p.360-365

2013

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Cognitive stimulation has potential for brain activation in individuals with Rett syndrome

Journal of intellectual disability research, 2022-03, Vol.66 (3), p.213-224

2022

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Mitochondrial diseases associated with cerebral folate deficiency

Neurology, 2008-04, Vol.70 (16), p.1360-1362

2008

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Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission

Seminars in pediatric neurology, 2016-11, Vol.23 (4), p.306-320

2016

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Betaine anhydrous in homocystinuria: results from the RoCH registry

Orphanet journal of rare diseases, 2019-03, Vol.14 (1), p.66-66, Article 66

2019

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Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Biochimica et biophysica acta, 2016-04, Vol.1862 (4), p.592-600

2016

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A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

Scientific reports, 2016-12, Vol.6 (1), p.1-7, Article 15

2016

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Epilepsy and inborn errors of metabolism in children

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.609-617

2009

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Mental retardation and inborn errors of metabolism

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.597-608

2009

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Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

European journal of paediatric neurology, 2015-11, Vol.19 (6), p.652-659

2015

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Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

Clinical biochemistry, 2011-06, Vol.44 (8), p.742-744

2011

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Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Molecular genetics and metabolism, 2015-01, Vol.114 (1), p.34-40

2015

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Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

Molecular genetics and metabolism, 2003-03, Vol.78 (3), p.186-192

2003

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Inborn errors of metabolism and motor disturbances in children

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.618-629

2009

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Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

Gene, 2013-12, Vol.532 (2), p.302-306

2013

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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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Neurological dysfunction induced by bilirrubin

Neurologia (Barcelona, Spain), 2012-05, Vol.27 (4), p.202

2012

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White matter alterations associated with chromosomal disorders

Developmental medicine and child neurology, 2004-03, Vol.46 (3), p.148-153

2004

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Secondary abnormalities of neurotransmitters in infants with neurological disorders

Developmental medicine and child neurology, 2007-10, Vol.49 (10), p.740-744

2007

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Clinical and molecular genetic features of ARC syndrome

Human genetics, 2006-10, Vol.120 (3), p.396-409

2006

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Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

European journal of paediatric neurology, 2009-09, Vol.13 (5), p.444-451

2009

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Epidemiological study of the metabolic diseases with homocystinuria in Spain

Anales de pediatría (Barcelona, Spain : 2003), 2012-03, Vol.76 (3), p.133-139

2012

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Parkinsonism and inborn errors of metabolism

Energy metabolism in childhood neurodevelopmental disorders

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Cognitive stimulation has potential for brain activation in individuals with Rett syndrome

Mitochondrial diseases associated with cerebral folate deficiency

Diseases of the synaptic vesicle: a potential new group of neurometabolic disorders affecting neurotransmission

Betaine anhydrous in homocystinuria: results from the RoCH registry

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

Epilepsy and inborn errors of metabolism in children

Mental retardation and inborn errors of metabolism

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

Inborn errors of metabolism and motor disturbances in children

Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

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

Neurological dysfunction induced by bilirrubin

White matter alterations associated with chromosomal disorders

Secondary abnormalities of neurotransmitters in infants with neurological disorders

Clinical and molecular genetic features of ARC syndrome

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

Epidemiological study of the metabolic diseases with homocystinuria in Spain

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