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High incidence of co‐existing GLA variants and stroke susceptibility

European journal of neurology, 2019-06, Vol.26 (6), p.e70-e70

2019

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Management of Leigh syndrome: Current status and new insights

Clinical genetics, 2018-06, Vol.93 (6), p.1131-1140

2018

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Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

European journal of neurology, 2018-10, Vol.25 (10), p.e111-e111

2018

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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.243-249

2009

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Pincer nail deformity as the main manifestation of Clouston syndrome

British journal of dermatology (1951), 2015-08, Vol.173 (2), p.581-583

2015

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Experimental treatment of bilateral fetal chylothorax using in‐utero pleurodesis

Ultrasound in obstetrics & gynecology, 2012-01, Vol.39 (1), p.56-62

2012

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Valproic acid treatment in six patients with spinal muscular atrophy

European journal of neurology, 2007-12, Vol.14 (12), p.e8-e9

2007

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Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence

Journal of structural biology, 2008-06, Vol.162 (3), p.500-508

2008

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Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

Journal of inherited metabolic disease, 2013, Vol.36 (1), p.129-137

2013

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A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

European journal of neurology, 2009-08, Vol.16 (8), p.912-919

2009

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Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.826-826

2007

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Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of neurology, 2008-06, Vol.255 (6), p.831-838

2008

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Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Archives of disease in childhood, 2009-01, Vol.94 (1), p.55-58

2009

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Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

Pediatric transplantation, 2010-05, Vol.14 (3), p.337-341

2010

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Neurology, 2010-07, Vol.75 (1), p.64

2010

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Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth‐restricted fetuses with normal or balanced G‐banded karyotype

Ultrasound in obstetrics & gynecology, 2006-12, Vol.28 (7), p.939-943

2006

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Deficiency of the carnitine transporter (OCTN2) with partial N‐acetylglutamate synthase (NAGS) deficiency

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.816-816

2007

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Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Journal of neurology, neurosurgery and psychiatry, 2005-04, Vol.76 (4), p.592-595

2005

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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular genetics and metabolism, 2009-11, Vol.98 (3), p.250-254

2009

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Plasma chitotriosidase activity and malaria

Clinica chimica acta, 2005-03, Vol.353 (1), p.215-215

2005

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Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Clinical genetics, 2009-10, Vol.76 (4), p.417-419

2009

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Mapping of psoriasis to 17q terminus

Journal of medical genetics, 2005-02, Vol.42 (2), p.152-158

2005

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Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant

Journal of inherited metabolic disease, 2002-11, Vol.25 (7), p.593-595

2002

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Expert recommendations for the laboratory diagnosis of MPS VI

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.73-82

2012

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Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study

European journal of paediatric neurology, 2017-06, Vol.21, p.e14-e14

2017

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High incidence of co‐existing GLA variants and stroke susceptibility

Management of Leigh syndrome: Current status and new insights

Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

Pincer nail deformity as the main manifestation of Clouston syndrome

Experimental treatment of bilateral fetal chylothorax using in‐utero pleurodesis

Valproic acid treatment in six patients with spinal muscular atrophy

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth‐restricted fetuses with normal or balanced G‐banded karyotype

Deficiency of the carnitine transporter (OCTN2) with partial N‐acetylglutamate synthase (NAGS) deficiency

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Plasma chitotriosidase activity and malaria

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Mapping of psoriasis to 17q terminus

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant

Expert recommendations for the laboratory diagnosis of MPS VI

Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study

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