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Featured researches published by Susan Hale.


JIMD Reports | 2013

Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

Nancy J. Mendelsohn; Timothy Wood; Rebecca A. Olson; Renee Temme; Susan Hale; Haoyue Zhang; Lisa Read; Klane K. White

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased activity of N-acetylgalactosamine 6-sulfatase enzyme resulting in accumulation of keratan sulfate. Clinical symptoms include coarse facial features, joint stiffness, hepatosplenomegaly, hip osteonecrosis, and dysostosis multiplex. MPS IVA symptoms are similar but with joint hypermobility.With suspicion of MPS disease, clinicians request urine studies for quantitative and qualitative glycosaminoglycans (GAGs). Diagnosis is confirmed by decreased enzyme activity in leukocytes or cultured skin fibroblasts. Further confirmation is obtained with identification of two mutations in the ARSB gene for MPS VI or mutations in the GALNS gene for MPS IVA.We report slowly progressing patients, one with MPS VI and two with MPS IVA, who presented with skeletal changes and hip findings resembling Legg-Calvé-Perthes disease or spondyloepiphyseal dysplasia and normal/near normal urine GAG levels. The urine analysis data presented suggest that present screening techniques for MPS are inadequate in milder patients and result in delayed or missed diagnoses. The patients presented in this paper emphasize the importance of enzymatic and molecular testing.


Molecular genetics and metabolism reports | 2016

Pregnancy in patients with mucopolysaccharidosis: a case series

Fiona Stewart; Andrew Bentley; Barbara K. Burton; Nathalie Guffon; Susan Hale; Paul Harmatz; Susanne Gerit Kircher; Pavan Kochhar; John J. Mitchell; Ursula Plöckinger; Sue Graham; Stephen Sande; Zlatko Sisic; Tracey Johnston

The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result of improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation, an increasing number of patients with MPS are reaching adulthood and are involved in family planning. Data on fertility and pregnancy outcome in MPS is sparse and comprises primarily isolated case reports. To address this evidence gap, we present a case series on fertility and pregnancy in eight mothers and five fathers with MPS. This case series demonstrates that women with MPS have high-risk pregnancies and deliveries secondary to their underlying disease. However, with appropriate pre-conceptual multi-disciplinary evaluation, optimization and discussion regarding potential risks, combined with regular multi-disciplinary maternal and fetal surveillance in a tertiary center, the outcome of most pregnancies in this case series seems to be favorable with all babies developing normally. Partners of fathers with MPS had uncomplicated pregnancies and deliveries. All children were healthy, with normal growth and development.


Journal of Inborn Errors of Metabolism and Screening | 2016

Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Fiona Stewart; Andrew Bentley; Barbara K. Burton; Nathalie Guffon; Susan Hale; Paul Harmatz; Susanne Gerit Kircher; Pavan Kochhar; John J. Mitchell; Ursula Plöckinger; Jennifer Semotok; Sue Graham; Stephen Sande; Zlatko Sisic; Tracey Johnston

The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired vision, and/or hearing and shortened life spans. Whereas in the past, few individuals with MPS reached adulthood, better diagnosis, multidisciplinary care, and new therapies have led to an increasing number of adult patients with MPS. Therefore, fertility and pregnancy questions in this patient population are becoming more important. Management of fertility issues and pregnancy in patients with MPS is challenging due to the lack of documented cases and a dearth in the literature on this topic. This review presents multidisciplinary expert opinions on managing fertility and pregnancy based on case studies and clinical experience presented at a meeting of MPS specialists held in Berlin, Germany, in April 2015. An overview of the existing literature on this su...


Molecular Genetics and Metabolism | 2016

Immunomodulation in a patient with Morquio syndrome type A treated with enzyme replacement therapy

Walaa Alshuaibi; Susan Hale; Daniel Petroni; Suzanne Skoda-Smith; Michael J. Goldberg; Angela Sun


Molecular Genetics and Metabolism | 2016

Pregnancy in individuals with mucopolysaccharidosis (MPS): A case series

Fiona Stewart; Paul Harmatz; Elizabeth Braunlin; Andrew Bentley; Barbara K. Burton; Nathalie Guffon; Susan Hale; Tracey Johnston; Susanne Gerit Kircher; Pavan Kochhar; John J. Mitchell; Ursula Plöckinger; Zlatko Sisic


Molecular Genetics and Metabolism | 2016

Management of fertility and pregnancy in individuals with mucopolysaccharidosis (MPS)

Fiona Stewart; Paul Harmatz; Elizabeth Braunlin; Andrew Bentley; Barbara K. Burton; Nathalie Guffon; Susan Hale; Tracey Johnston; Susanne Gerit Kircher; Pavan Kochhar; John J. Mitchell; Ursula Plöckinger; Jennifer Semotok; Zlatko Sisic


Molecular Genetics and Metabolism | 2014

Living with infantile Pompe disease in the enzyme replacement therapy era - an evolving natural history

Susan Hale; Angela Sun; Tracy Whittaker; Kelly L. Jones; Klane K. White


Molecular Genetics and Metabolism | 2013

The Pompe disease experience in Washington State: Epidemiology, clinical comparisons and mutation update

Susan Hale; Angela Sun; J. Lawrence Merritt; Deborah Laigaie; Sihoun Hahn


Molecular Genetics and Metabolism | 2012

The Mild Side of MPS Disorders: Are These Cases Being Missed by Urine Screening and Other Common Diagnostic Methods?

Klane K. White; Nancy J. Mendelsohn; Susan Hale; Olson Rebecca; Ward Tim


Molecular Genetics and Metabolism | 2011

Pearls: Unusual presentation and clinical information in a young MPS II Patient

Susan Hale

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Andrew Bentley

University Hospital of South Manchester NHS Foundation Trust

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Pavan Kochhar

University of Manchester

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Barbara K. Burton

Children's Memorial Hospital

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Paul Harmatz

Children's Hospital Oakland

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John J. Mitchell

Montreal Children's Hospital

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