Heather Ann Lau MD

PubMed

• Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.
  Genevieve E Wilson, Deberah S Goldman, Harriet Saxe, Xiaochun Li, Judith D Goldberg
  Journal of the Neurological Sciences. 2024-09-15
• 1 citations
  Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
  Julie Kissell, Camille Rochmann, Pascal Minini, Florian Eichler, Christopher D Stephen
  Molecular Genetics and Metabolism. 2024-07-01
• 1 citations
  Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
  Deborah Elstein, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Diego Fernandez-Sasso
  Journal of Clinical Medicine. 2024-06-19

Journal Articles

• Multi-domain impact of elosufase alfa in Morquio A syndrome: assessments of tertiary endpoints from the pivotal phase III trial  
  Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R Hughes D, Pastores GM, Lau HA, Al-Sayed MD; Raiman J, Jin D, STRIVE Investigat..., Mol Genet Metab, 9/6/2014
• Shear-wave ultrasonography evaluation of human skeletal muscle in healthy subjects versus those with GNE-related myopathy  
  Carpenter E, Lau H, Kolodny E, Adler R, Radiology, 9/1/2014
• Branching Enzyme Deficiency: Expanding the Clinical Spectrum  
  Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S, JAMA Neurol, 11/18/2013
• Teaching NeuroImages: Molar tooth sign with hypotonia, ataxia, and nystagmus (Joubert syndrome) and hypothyroidism  
  Graber, Jerome J; Lau, Heather; Sathe, Swati, Neurology, 12/1/2009
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Books/Book Chapters

• Motor Disorders 
  Chapter: Neurogenetic evaluation of motor disorders 
  Page 157 - 164Pastores, Gregory M; Lau, Heather AAmerican Association of Neuromuscular and Electrodiagnostic MedicineEdition 3rd,2013
• Medlink Neurology 
  Chapter: Acute hemiplegia of childhood 
  Lau, H.; Nass, R.; Marquis, BEditors: Gilman S.MedLink Corporation, San Diego, CA2012

Abstracts/Posters

• A Controlled PHASE 2 Study of Sialic Acid-extended Release (SA-ER) IN GNE Myopathy
  Z. Argov, Y. Caraco, H. Lau, A. Pestronk, P. Shieh, A.M. Skrinar, J. Mayhew, J. Martinisi, E Kakkis, ICNMD, 7/1/2014
• Oral Sialic Acid Extended Release (SA-ER) Stabilizes Upper Extremity Muscle Strength in Human GNE Myopathy: A Phase 2 Study
  Z. Argov, MD, Y. Caraco, MD, H. Lau, MD, A. Pestronk, MD, P. Shieh, MD, A. M. Skrinar,J. Mayhew, J. Martinisi and E. Kakkis, MD Ph.D., AAN, 5/1/2014
• Longitudinal studies of brain structure and function in MPS disorders: a study of the lysosomal disease network
  Shapiro, Elsa; Delaney, Kathleen; King, Kelly; Nestrasil, Igor; Ahmed, Alia; Raiman, Julian; Harmatz, Paul; Lau, Heather; Shankar, Suma; Cowan, Morton; Whitley, Chester B, Molecular genetics & metabolism, 1/1/2014
• Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
  Mayhew, J. E.; Skrinar, A. M.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenberg, M.; Malkus, E.; Rebibo, O.; Siener, C.; Caraco, Y.;..., Neuromuscular disorders, 10/1/2013
• GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence 
  Skrinar, A. M.; Argov, Z.; Caraco, Y.; Kolodny, E.; Lau, H.; Pestronk, A.; Shieh, P.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenbe..., Neuromuscular disorders, 10/1/2013
• Characterization of Strength and Function in Adults with Inclusion Body Myopathy (HIBM)/GNE Myopathy
  J.E. Mayhew, A.M. Skrinar, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Malkus, O. Rebibo, C. Siener, Y. Caraco, E. Kolodny, H..., World Muscle Society Congress, 1/1/2013
• . GNE Myopathy Functional Activity Scale (GNEM-FAS): Development of a Disease-Specific Instrument for Measuring Function and Independence
  A. M. Skrinar, Z. Argov, Y. Caraco, E. Kolodny, H. Lau, A. Pestronk, P. Shieh, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. Florence, E. Fowler, M. Greenberg, E. Ma..., World Muscle Society Congress, 1/1/2013
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Lectures

• Randomized controlled phase 2 study of GNE myopathy subjects treated with placebo, 6g or 3g doses of extended-release sialic acid (SA-ER) and an extension study at a ... 
  Berlin - 10/11/2014
• Epilepsy in Adults with Intellectual and Developmental Disabilities: Genetics 
  1/1/2014
• CNV in Epilepsy 
  1/1/2014
• Spectrum of disease in Canavan 
  1/1/2014
• GNE-related myopathy: Clinical presentation Of 16 Patients and Discussion of Emerging Therapies 
  1/1/2014
• Neurological Manifestations of Fabry Disease throughout the lifespan 
  1/1/2013
• Hunter Syndrome: Patient Perspective and Overview Overview of Clinical Presentation, Diagnosis and Management 
  1/1/2013
• Case presentation of Niemann Pick Type C 
  1/1/2013
• Metachromatic Leukodystrophy Spectrum of Disease 
  1/1/2012
• Epileptic Channelopathies: Spectrum of SCN1A Mutations 
  1/1/2012
• Phenotypic Variation of X-linked Adrenoleukodystrophy And Current Treatment Strategies 
  1/1/2012
• Phenotypic Variation of GBE1 Deficiency Within One Family 
  1/1/2011
• Neurogenetics Case Presentation: The Approach to the Hypotonic Infant 
  1/1/2011
• Neurogenetics: Case Presentation (Overview and Approach to Diagnosis of Vanishing White Matter Disease) 
  1/1/2011
• Diagnosing Canavan Disease: Clinical and Laboratory Dilemmas 
  1/1/2011
• Neurogenetics: Case Presentation (Overview and Approach to Diagnosis of Spinal Bulbar Muscular Atrophy) 
  1/1/2010
• GM1 Gangliosidosis: Overview and Emerging Treatment Strategies 
  1/1/2010
• Neuronal Ceroid Lipofuscinosis: Case Presentation And Review of NCL Types 
  1/1/2009
• Dysautonomia in AIDP 
  1/1/2009
• Neurologic Manifestations of Methotrexate Toxicity 
  1/1/2008
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