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Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

Muscle & nerve, 2018-05, Vol.57 (5), p.829-837

2018

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The natural history of MPS I: global perspectives from the MPS I Registry

Genetics in medicine, 2014-10, Vol.16 (10), p.759-765

2014

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Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.34-7, Article 34

2019

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A two-hit model for developmental defects in Gorlin syndrome

Nature genetics, 1996-01, Vol.12 (1), p.85-87

1996

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AVR-RD-01 lentiviral gene therapy reduces Gb3 substrate in endothelial cells of renal peritubular capillaries in a previously untreated classic Fabry disease male patient

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S156-S157

2020

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Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

Annals of otology, rhinology & laryngology, 2015-03, Vol.124 (3), p.198-205

2015

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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.131-131, Article 131

2015

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Guidelines for sample collection and handling from the biomarker working group for the mucopolysaccharidoses

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S43-S43

2014

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review

Amyloid, 2017-03, Vol.24 (sup1), p.111-112

2017

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International Collaborative Gaucher Group (ICGG) Gaucher Registry: 20 years of sustainability and evolution

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S39-S39

2013

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

Human molecular genetics, 2001-12, Vol.10 (25), p.2851-2859

2001

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Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases

Amyloid, 2017-03, Vol.24 (sup1), p.109-110

2017

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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S93-S94

2015

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Enzyme augmentation in moderate to life-threatening gaucher disease

Pediatric research, 1992-05, Vol.31 (5), p.496-502

1992

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Prenatal detection of monosomy 21 mosaicism

Prenatal diagnosis, 1993-03, Vol.13 (3), p.163-169

1993

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Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

American journal of medical genetics, 1996-08, Vol.64 (3), p.485-487

1996

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Mosaicism with a normal cell line and an unbalanced structural rearrangement

American journal of medical genetics, 1999-01, Vol.82 (1), p.15-19

1999

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DOCA-enhanced sites of vasopressin-stimulated cAMP formation in rat cortical collecting tubule

American journal of physiology. Renal, fluid and electrolyte physiology, 1992-12, Vol.263 (6), p.1093

1992

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DOCA-enhanced sites of vasopressin-stimulated cAMP formation in rat cortical collecting tubule

American journal of physiology. Renal, fluid and electrolyte physiology, 1992, Vol.32 (6), p.F1093-F1097

1992

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Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

The natural history of MPS I: global perspectives from the MPS I Registry

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

A two-hit model for developmental defects in Gorlin syndrome

AVR-RD-01 lentiviral gene therapy reduces Gb3 substrate in endothelial cells of renal peritubular capillaries in a previously untreated classic Fabry disease male patient

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Guidelines for sample collection and handling from the biomarker working group for the mucopolysaccharidoses

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C

Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review

International Collaborative Gaucher Group (ICGG) Gaucher Registry: 20 years of sustainability and evolution

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Enzyme augmentation in moderate to life-threatening gaucher disease

Prenatal detection of monosomy 21 mosaicism

Congenital vocal cord paralysis with possible autosomal recessive inheritance: Case report and review of the literature

Mosaicism with a normal cell line and an unbalanced structural rearrangement

DOCA-enhanced sites of vasopressin-stimulated cAMP formation in rat cortical collecting tubule

DOCA-enhanced sites of vasopressin-stimulated cAMP formation in rat cortical collecting tubule

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