Search Results - "Bailey, Laurie"
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Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies
Published in Epilepsy & behavior (01-11-2020)“…Caring for children with developmental and epileptic encephalopathies (DEEs) places substantial demands on the entire family unit, including siblings. The…”
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Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease
Published in The American journal of cardiology (15-07-2017)“…Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the…”
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Acute Progression of Neuromuscular Findings in Infantile Pompe Disease
Published in Pediatric neurology (01-06-2010)“…A 2-year-old girl with Pompe disease developed an acute worsening of muscle weakness during a hospitalization, and required intubation for an upper respiratory…”
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Amantadine for the Treatment of Refractory Absence Seizures in Children
Published in Pediatric neurology (01-04-2012)“…Abstract Amantadine has demonstrated efficacy in small series for absence and myoclonic type seizures. We examined the efficacy of amantadine for treating…”
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Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease
Published in Genetics in medicine (01-06-2006)“…Fabry disease is an X-linked lysosomal disorder due to mutations in the GLA gene. Manifestations of the disease are documented in hemizygous males. Recent…”
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64 Quality of life for pediatric patients with Fabry disease
Published in Molecular genetics and metabolism (01-12-2007)Get full text
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The importance of the autopsy in understanding rare disease: Defining the role of the genetics team
Published in Molecular genetics and metabolism (01-02-2020)Get full text
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Female sexual dysfunction: A nontraditional risk factor for cardiovascular disease
Published in Current sexual health reports (01-12-2008)“…Although a plethora of data support the link between male erectile dysfunction and cardiovascular disease (CVD), no studies specifically address a link between…”
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Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies
Published in Blood cells, molecules, & diseases (2003)“…The clinical impact of neutralizing antibodies directed against the therapeutic enzyme was investigated in patients with Gaucher disease. Two patients with…”
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Evaluation of drug-endangered children: The yield of toxicology and skeletal survey screening
Published in Child abuse & neglect (01-10-2019)“…Drug endangerment is known to be associated with child maltreatment. However, even with the high association between physical abuse and drug endangerment there…”
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Novel neurological findings in an adult patient with Gaucher disease
Published in Molecular genetics and metabolism (01-02-2022)Get full text
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Safety of enzyme replacement therapy to treat Hunter syndrome in children aged 5 years and under
Published in Molecular genetics and metabolism (01-02-2018)Get full text
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A comparison of clinical outcomes and transplant complications/morbidity with early (<4 months of age) versus late (~ 1 yr of age) hematopoietic stem cell transplant in sibling pairs with a diagnosis of MPS I (Hurler syndrome)
Published in Molecular genetics and metabolism (01-02-2020)Get full text
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PEDiDBS: The Pediatric International Deep Brain Stimulation Registry Project
Published in European journal of paediatric neurology (01-01-2017)“…Abstract Interactive neuromodulation represents the evolving frontier in surgical treatment of a variety of disorders involving the sensory organs and nervous…”
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Pain and fatigue associated with generalized joint hypermobility in Gaucher disease
Published in Molecular genetics and metabolism (01-02-2019)“…Gaucher Disease (GD) is a lysosomal storage disease characterized by hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and crises. While most…”
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Utility of multiple myeloma screening in Gaucher disease
Published in Molecular genetics and metabolism (01-02-2019)“…Gaucher disease (GD) is a lysosomal storage disease characterized by deficiency of glucocerebrosidase within lysosomes, altering degradation of…”
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Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes
Published in American journal of medical genetics. Part A (01-01-2003)“…Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid β‐glucosidase (GCase) locus. Two affected individuals are…”
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CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings
Published in Molecular genetics and metabolism (01-02-2015)“…A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11years, experienced progressive mesenteric and retroperitoneal…”
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Burden of Valvular Heart Disease in Patients with Fabry Disease
Published in Journal of the American Society of Echocardiography (01-02-2022)Get full text
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