Maria L Escolar

Program for the Study of Neurodevelopment in Rare Disorders and Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, United States.

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October 2020

Long-Term Neurodevelopmental Outcomes of Hematopoietic Stem Cell Transplantation for Late-Infantile Krabbe Disease.

Authors:

Isabel C Yoon Nicholas A Bascou Michele D Poe Paul Szabolcs Maria L Escolar

Blood 2020 Nov 4. Epub 2020 Nov 4.

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.

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November 2020

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

Authors:

Johanna H van der Lee Jonathan Morton Heather R Adams Lorne Clarke Julie B Eisengart Maria L Escolar Roberto Giugliani Paul Harmatz Melissa Hogan Shauna Kearney Joseph Muenzer Nicole Muschol Stewart Rust Benjamin R Saville Margaret Semrud-Clikeman Raymond Wang Elsa Shapiro

Mol Genet Metab 2020 Sep - Oct;131(1-2):181-196. Epub 2020 Aug 31.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Shapiro Neuropsychology Consulting LLC, Portland, OR, USA. Electronic address:

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August 2020

Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.

Authors:

Akhil Bhalla Ritesh Ravi Meng Fang Annie Arguello Sonnet S Davis Chi-Lu Chiu Jessica R Blumenfeld Hoang N Nguyen Timothy K Earr Junhua Wang Giuseppe Astarita Yuda Zhu Damian Fiore Kimberly Scearce-Levie Dolores Diaz Heather Cahan Matthew D Troyer Jeffrey M Harris Maria L Escolar

Int J Mol Sci 2020 Jul 22;21(15). Epub 2020 Jul 22.

Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

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July 2020

Reduced-intensity single-unit unrelated cord blood transplant with optional immune boost for nonmalignant disorders.

Authors:

Mark T Vander Lugt Xiaohua Chen Maria L Escolar Beth A Carella Jessie L Barnum Randy M Windreich Memphis J Hill Michelle Poe Rebecca A Marsh Heather Stanczak Elizabeth O Stenger Paul Szabolcs

Blood Adv 2020 07;4(13):3041-3052

Division of Blood and Marrow Transplantation and Cellular Therapies and.

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July 2020

Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction.

Authors:

Nadav I Weinstock Daesung Shin Narayan Dhimal Xinying Hong Eric E Irons Nicholas J Silvestri Chelsey B Reed Duc Nguyen Oliver Sampson Yung-Chih Cheng Joseph T Y Lau Ernesto R Bongarzone Julia Kofler Maria L Escolar Michael H Gelb Lawrence Wrabetz M Laura Feltri

Neuron 2020 07 5;107(1):65-81.e9. Epub 2020 May 5.

Hunter James Kelly Research Institute, Departments of Biochemistry and Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14203, USA. Electronic address:

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July 2020

Spontaneous Third Ventriculostomy in Krabbe Disease.

Authors:

Giulio Zuccoli Aram Kim Michele Poe Maria L Escolar

Pediatr Neurol 2020 07 2;108:99-105. Epub 2019 Dec 2.

Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:

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July 2020

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Genet Med 2020 Jun 24;22(6):1108-1118. Epub 2020 Feb 24.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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June 2020

General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.

Authors:

Nicholas A Bascou Maria C Marcos Maria L Beltran Quintero Mercedes C Roosen-Marcos Franklyn P Cladis Michele D Poe Maria L Escolar

Paediatr Anaesth 2019 10 4;29(10):1053-1059. Epub 2019 Sep 4.

Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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October 2019

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

Authors:

Randall D Marshall Abigail Collins Maria L Escolar H A Jinnah Thomas Klopstock Michael C Kruer Aleksandar Videnovic Amy Robichaux-Viehoever Colleen Burns Laura L Swett Dennis A Revicki Randall H Bender William R Lenderking

Orphanet J Rare Dis 2019 07 12;14(1):174. Epub 2019 Jul 12.

Evidera, Inc, Bethesda, MD, USA.

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July 2019

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.

Authors:

Thomas Klopstock Maria L Escolar Randall D Marshall Belen Perez-Dueñas Sarah Tuller Aleksandar Videnovic Feriandas Greblikas

Clin Trials 2019 08 6;16(4):410-418. Epub 2019 May 6.

8 Research & Development, Retrophin, Inc., San Diego, CA, USA.

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August 2019

A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.

Authors:

Randall D Marshall Abigail Collins Maria L Escolar H A Jinnah Thomas Klopstock Michael C Kruer Aleksandar Videnovic Amy Robichaux-Viehoever Laura Swett Dennis A Revicki Randall H Bender William R Lenderking

Mov Disord Clin Pract 2019 Feb 22;6(2):139-149. Epub 2019 Jan 22.

Evidera, Inc Bethesda Maryland USA.

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February 2019

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Authors:

Maria L Beltran-Quintero Nicholas A Bascou Michele D Poe David A Wenger Carlos A Saavedra-Matiz Matthew J Nichols Maria L Escolar

Orphanet J Rare Dis 2019 02 18;14(1):46. Epub 2019 Feb 18.

Program for the Study of Neurodevelopment in Rare Disorders and Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15144, USA.

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February 2019

Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB.

Authors:

Chester B Whitley Suresh Vijay Bert Yao Mercé Pineda Geoff J M Parker Sandra Rojas-Caro Xiaoping Zhang Yang Dai Amy Cinar Gillian Bubb Kiran C Patki Maria L Escolar

Mol Genet Metab 2019 02 6;126(2):131-138. Epub 2018 Dec 6.

Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. Electronic address:

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February 2019

Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.

Authors:

Thomas J Langan Joseph J Orsini Kabir Jalal Amy L Barczykowski Maria L Escolar Michele D Poe Chad K Biski Randy L Carter

Genet Med 2019 07 14;21(7):1644-1651. Epub 2018 Dec 14.

Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY, USA.

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July 2019

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.

Authors:

Nicholas Bascou Anthony DeRenzo Michele D Poe Maria L Escolar

Orphanet J Rare Dis 2018 08 9;13(1):126. Epub 2018 Aug 9.

Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

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August 2018

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Authors:

Maria L Escolar Simon A Jones Elsa G Shapiro Dafne D G Horovitz Christina Lampe Hernán Amartino

Mol Genet Metab 2017 12 27;122S:35-40. Epub 2017 Sep 27.

Department of Child Neurology, Hospital Universitario Austral, Buenos Aires, Argentina.

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December 2017

Treatment of brain disease in the mucopolysaccharidoses.

Authors:

Maurizio Scarpa Paul J Orchard Angela Schulz Patricia I Dickson Mark E Haskins Maria L Escolar Roberto Giugliani

Mol Genet Metab 2017 12 16;122S:25-34. Epub 2017 Oct 16.

Department of Genetics, UFRGS & Medical Genetics Service, HCPA, INAGEMP, Porto Alegre, RS, Brazil.

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December 2017

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

Authors:

Elsa G Shapiro Maria L Escolar Kathleen A Delaney John J Mitchell

Mol Genet Metab 2017 12 15;122S:8-16. Epub 2017 Sep 15.

Departments of Endocrinology and Metabolism & Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.

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December 2017

Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.

Authors:

Elsa G Shapiro Simon A Jones Maria L Escolar

Mol Genet Metab 2017 12 26;122S:1-7. Epub 2017 Aug 26.

Program for the Study of Neurodevelopment in Rare Disorders, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

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December 2017

Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study.

Authors:

Matthew D Wright Michele D Poe Anthony DeRenzo Shilpa Haldal Maria L Escolar

Neurology 2017 Sep 30;89(13):1365-1372. Epub 2017 Aug 30.

From the Program for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh, PA.

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September 2017

Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.

Authors:

Hsuan-Chieh Liao Zdenek Spacil Farideh Ghomashchi Maria L Escolar Joanne Kurtzberg Joseph J Orsini Frantisek Turecek C Ronald Scott Michael H Gelb

Clin Chem 2017 Aug 7;63(8):1363-1369. Epub 2017 Jun 7.

Department of Chemistry, University of Washington, Seattle, WA;

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August 2017

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

Authors:

Johanna H van der Lee Jonathan Morton Heather R Adams Lorne Clarke Berendine Johanne Ebbink Maria L Escolar Roberto Giugliani Paul Harmatz Melissa Hogan Simon Jones Shauna Kearney Joseph Muenzer Stewart Rust Margaret Semrud-Clikeman Frits A Wijburg Zi-Fan Yu Darren Janzen Elsa Shapiro

Mol Genet Metab 2017 06 6;121(2):70-79. Epub 2017 May 6.

Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA; Shapiro Neuropsychology Consulting, LLC, Portland, OR, USA. Electronic address:

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June 2017