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The incidence of inherited porphyrias in Europe

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.849-857

2013

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Mitochondrial ATP synthase: architecture, function and pathology

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.211-225

2012

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general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.469-477

2010

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Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.979-990

2014

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Very high prevalence of thyroid nodules detected by high frequency (13 MHz) ultrasound examination

European journal of clinical investigation, 2009-08, Vol.39 (8), p.699-706

2009

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Progress in understanding 2-hydroxyglutaric acidurias

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.571-587

2012

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.603-611

2012

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Lipoic acid biosynthesis defects

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.553-563

2014

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Mitochondrial transporters of the SLC25 family and associated diseases: a review

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.565-575

Palmieri, Ferdinando

2014

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Ketone body metabolism and its defects

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.541-551

2014

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Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.333-339

2014

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Diagnosis and management of glutaric aciduria type I – revised recommendations

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694

2011

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840

2014

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enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.479-494

2010

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Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.399-404

2014

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Congenital disorders of glycosylation: new defects and still counting

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.609-617

2014

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Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

Journal of inherited metabolic disease, 2010-10, Vol.33 (2), p.295-305

2010

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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.91-102

2012

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Trace elements in nails as biomarkers in clinical research

European journal of clinical investigation, 2011-01, Vol.41 (1), p.98-102

He, Ka

2011

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Systematic review of the evidence for the etiology of adult sudden sensorineural hearing loss

The Laryngoscope, 2010-05, Vol.120 (5), p.1011-1021

2010

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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Journal of inherited metabolic disease, 2011-12, Vol.34 (6), p.1183-1197

2011

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Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.521-526

2010

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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

Journal of inherited metabolic disease, 2013, Vol.36 (1), p.21-27

2013

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Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.889-898

2014

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.613-625

2012

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The incidence of inherited porphyrias in Europe

Mitochondrial ATP synthase: architecture, function and pathology

general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Very high prevalence of thyroid nodules detected by high frequency (13 MHz) ultrasound examination

Progress in understanding 2-hydroxyglutaric acidurias

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Lipoic acid biosynthesis defects

Mitochondrial transporters of the SLC25 family and associated diseases: a review

Ketone body metabolism and its defects

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management

Diagnosis and management of glutaric aciduria type I – revised recommendations

Clinical presentation and outcome in a series of 88 patients with the cblC defect

enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Congenital disorders of glycosylation: new defects and still counting

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

Trace elements in nails as biomarkers in clinical research

Systematic review of the evidence for the etiology of adult sudden sensorineural hearing loss

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

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