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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

American journal of medical genetics, 2002-05, Vol.109 (4), p.328-331

2002

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Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Human genetics, 1991-03, Vol.86 (5), p.505-508

1991

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Signal One and Two Blockade Are Both Critical for Non-Myeloablative Murine HSCT across a Major Histocompatibility Complex Barrier: e77632

PloS one, 2013-10, Vol.8 (10)

2013

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Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function

Human molecular genetics, 1997-09, Vol.6 (9), p.1573-1579

1997

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Mucopolysaccharidoses and Oligosaccharidoses

Inborn Metabolic Diseases, p.495-507

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Treatment: Present Status and New Trends

Inborn Metabolic Diseases, p.81-97

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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

American Journal of Medical Genetics, 2002, Vol.109 (4), p.328-331

2002

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A CURIOUS FORMATION OF HORSE'S SKULL

Scientific American, 1904-07, Vol.91 (2), p.31-31

WRAITH, ED. J. C.

1904

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The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Orphanet journal of rare diseases, 2008-09, Vol.3 (1), p.24-24, Article 24

2008

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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A CURIOUS FORMATION OF HORSE'S SKULL

Scientific American, 1904-07, Vol.XCI (No. 2.), p.31

BY ED. J. C. WRAITH

1904

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Mucopolysaccharidoses and the Eye

Survey of ophthalmology, 2006, Vol.51 (1), p.1-17

2006

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Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

Blood, 2013-05, Vol.121 (19), p.3981-3987

2013

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Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Human mutation, 2008-06, Vol.29 (6), p.E13-E26

2008

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Long Term Outcomes of Hematopoietic Stem Cell Transplantation in Patients with Severe Phenotype Hurler Syndrome: an International Multi-Center Study

Blood, 2012-11, Vol.120 (21), p.1958-1958

2012

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Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Neurosurgery, 2001-04, Vol.48 (4), p.849-853

2001

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Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

The Journal of pediatrics, 2000-04, Vol.136 (4), p.545-547

2000

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Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

Circulation (New York, N.Y.), 2008-10, Vol.118 (suppl_18)

2008

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A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

JIMD Reports - Volume 11, 2013-01, Vol.11, p.13-16

2013

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Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated

BMJ (Online), 2001-01, Vol.322 (7278), p.112

International edition, 2001

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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Signal One and Two Blockade Are Both Critical for Non-Myeloablative Murine HSCT across a Major Histocompatibility Complex Barrier: e77632

Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function

Mucopolysaccharidoses and Oligosaccharidoses

Treatment: Present Status and New Trends

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

A CURIOUS FORMATION OF HORSE'S SKULL

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

A CURIOUS FORMATION OF HORSE'S SKULL

Mucopolysaccharidoses and the Eye

Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA

Long Term Outcomes of Hematopoietic Stem Cell Transplantation in Patients with Severe Phenotype Hurler Syndrome: an International Multi-Center Study

Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

Abstract 4396: Clinical Response to Recombinant Acid α-Glucosidase is Predicted by Cardiac Outcome Measures in Children with Pompe Disease

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated

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