Publications by authors named "Susan Waisbren"

69Publications

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.

J Inherit Metab Dis 2020 11 3;43(6):1205-1218. Epub 2020 Aug 3.

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.

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November 2020

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Orphanet J Rare Dis 2019 10 22;14(1):232. Epub 2019 Oct 22.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California at Irvine, 101 The City Drive South, Orange, CA, 92868, USA.

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October 2019

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 10 9;381(17):1644-1652. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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October 2019

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

J Inherit Metab Dis 2019 11 1;42(6):1176-1191. Epub 2019 Aug 1.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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November 2019

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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March 2019

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Mol Genet Metab 2019 04 22;126(4):368-376. Epub 2019 Jan 22.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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April 2019

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

J Inherit Metab Dis 2019 03 22;42(2):243-253. Epub 2019 Jan 22.

Division of Neuropaediatrics and Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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March 2019

Revising the Psychiatric Phenotype of Homocystinuria.

Genet Med 2019 08 15;21(8):1827-1831. Epub 2019 Jan 15.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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August 2019

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

Mol Genet Metab 2018 11 12;125(3):228-234. Epub 2018 Sep 12.

Boston Children's Hospital and Harvard Medical School, 1 Autumn St., Rm #526, Boston, MA 02115, United States.

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November 2018

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):657-667. Epub 2018 Feb 8.

Children's Hospital of Los Angeles, Los Angeles, CA, USA.

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July 2018

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

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September 2017

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.

Mol Genet Metab Rep 2017 Jun 28;11:54-58. Epub 2017 Apr 28.

Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.

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June 2017

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

Mol Genet Metab 2017 05 10;121(1):9-15. Epub 2017 Mar 10.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Medicine, VA Boston Healthcare System, Boston, MA 02115, USA. Electronic address:

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May 2017