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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.745-747

2017

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PS-01-011 Sexual identity, experiences and attitudes of people with developmental disabilities

Journal of sexual medicine, 2019-05, Vol.16 (5), p.S4-S4

2019

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Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results)

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S313-S314

2015

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Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

Clinical genetics, 2008-02, Vol.73 (2), p.160-164

2008

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Tango 2 Case Series: Cardiac Manifestations

Heart, lung & circulation, 2022, Vol.31, p.S10-S10

2022

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P373 Effect size analysis of cipaglucosidase alfa + miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S151-S151

2023

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O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S191-S191

2023

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FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S73

2022

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Detection of treatable neonatal liver disease by expanded newborn screening

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.271-273

2008

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POMPE DISEASE: EP.196 Cipaglucosidase alfa-miglustat versus alglucosidase alfa-placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S108-S109

2021

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POMPE DISEASE

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S108-S109

2021

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Journal of medical genetics, 2013-07, Vol.50 (7), p.463-472

2013

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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

Cytogenetic and genome research, 2009-01, Vol.124 (1), p.94-101

2009

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S122

2019

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PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS: O.22First-in-human study of ATB200/AT2221 in patients with Pompe disease: 24-month functional assessment results from the ATB200-02 trial

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S122-S122

2019

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NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.20Results from ATB200-02: first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 for Pompe disease

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S92-S92

2018

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NEW THERAPEUTIC APPROACHES AND THEIR READOUT

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S92

2018

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G.O.20 - Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results)

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S313-S314

2015

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The quality of life of adults with intellectual disabilities (ID) living in different environments in Croatia

Journal of intellectual disability research, 2004-06, Vol.48, p.461

2004

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Familial 22qll.2 duplication : a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

Clinical genetics, 2008, Vol.73 (2), p.160-164

2008

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TETRA (terrestrial trunked radio) - technical features and application of professional communication technologies in mobile digital radio networks for special purpose services

47th International Symposium ELMAR, 2005, 2005, p.307-310

2005

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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2024-10, Vol.404 (10460), p.1333-1345

2024

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Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1

Blood, 2022-03, Vol.139 (12), p.1833-1849

2022

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Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108251, Article 108251

2024

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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

PS-01-011 Sexual identity, experiences and attitudes of people with developmental disabilities

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results)

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

Tango 2 Case Series: Cardiac Manifestations

P373 Effect size analysis of cipaglucosidase alfa + miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa

FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Detection of treatable neonatal liver disease by expanded newborn screening

POMPE DISEASE: EP.196 Cipaglucosidase alfa-miglustat versus alglucosidase alfa-placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses

POMPE DISEASE

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS

PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS: O.22First-in-human study of ATB200/AT2221 in patients with Pompe disease: 24-month functional assessment results from the ATB200-02 trial

NEW THERAPEUTIC APPROACHES AND THEIR READOUT: O.20Results from ATB200-02: first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 for Pompe disease

NEW THERAPEUTIC APPROACHES AND THEIR READOUT

G.O.20 - Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results)

The quality of life of adults with intellectual disabilities (ID) living in different environments in Croatia

Familial 22qll.2 duplication : a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

TETRA (terrestrial trunked radio) - technical features and application of professional communication technologies in mobile digital radio networks for special purpose services

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1

Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

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