James Weisfeld-Adams

James Weisfeld-Adams

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James Weisfeld-Adams

James Weisfeld-Adams

Publications by authors named "James Weisfeld-Adams"

28Publications

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1PubMed Central Citations

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.

Ann Neurol 2019 Nov 11;86(5):695-703. Epub 2019 Sep 11.

Section of Infections of the Nervous System, Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1002/ana.25588DOI Listing
November 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.

J Inherit Metab Dis 2017 01 10;40(1):159-160. Epub 2016 Nov 10.

Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1007/s10545-016-9985-2DOI Listing
January 2017

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Epilepsy Res 2017 01 6;129:17-25. Epub 2016 Nov 6.

Department of Human Genetics, Emory University, Atlanta, GA 30322, United States. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321682PMC
January 2017

Rapid resolution of infantile lipemia retinalis following exchange transfusion.

J Inherit Metab Dis 2016 11 12;39(6):889-890. Epub 2016 Aug 12.

Department of Pediatrics, Divisions of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1007/s10545-016-9968-3DOI Listing
November 2016

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

JIMD Rep 2017 18;35:1-5. Epub 2016 Nov 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/8904_2016_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585103PMC
November 2016

The Abyss.

N Engl J Med 2016 Aug;375(8):713-5

From the Department of Pediatrics, University of Colorado School of Medicine, Aurora.

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http://dx.doi.org/10.1056/NEJMp1507437DOI Listing
August 2016

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

Br J Ophthalmol 2016 May 25;100(5):704-7. Epub 2015 Aug 25.

Division of Neuro-ophthalmology, Department of Neurology, New York University School of Medicine, New York, New York, USA.

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http://bjo.bmj.com/content/early/2015/08/25/bjophthalmol-201
Web Search
http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2015-3070
Publisher Site
http://dx.doi.org/10.1136/bjophthalmol-2015-307012DOI Listing
May 2016

A 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

NPJ Genom Med 2016 2;1. Epub 2016 Mar 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/npjgenmed.2016.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102301PMC
March 2016

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Mol Genet Metab 2015 Apr 19;114(4):537-46. Epub 2015 Feb 19.

Children's Hospital Colorado, Aurora, CO, USA; Department of Ophthalmology, University of Colorado School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.ymgme.2015.01.012DOI Listing
April 2015

Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

J Inherit Metab Dis 2015 Mar 12;38(2):365-6. Epub 2014 Nov 12.

Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA,

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http://dx.doi.org/10.1007/s10545-014-9791-7DOI Listing
March 2015

Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945.

J Neurooncol 2015 Feb 28;121(3):573-81. Epub 2014 Nov 28.

Division of Pediatric Hematology, Oncology, and Palliative Care, Department of Pediatrics, Faculty of Medicine & Dentistry, Stollery Children's Hospital, University of Alberta, 8-43B Medical Sciences Building, Edmonton, AB, T6G 2H7, Canada,

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http://dx.doi.org/10.1007/s11060-014-1669-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323766PMC
February 2015

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Mol Genet Metab 2013 Nov 25;110(3):241-7. Epub 2013 Jul 25.

Departments of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.018DOI Listing
November 2013

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Eur J Med Genet 2012 Dec 9;55(12):732-6. Epub 2012 Oct 9.

Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.011DOI Listing
December 2012

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Am J Med Genet A 2011 Oct;155A(10):2508-11

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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October 2011

Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.

Childs Nerv Syst 2009 Feb 21;25(2):153-9. Epub 2008 Nov 21.

Department of Human Genetics and Genomic Sciences, Kravis Children's Hospital at Mount Sinai Medical Center, New York, NY 10029-6574, USA.

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http://dx.doi.org/10.1007/s00381-008-0744-zDOI Listing
February 2009

Three sisters with Chiari I malformation with and without associated syringomyelia.

Pediatr Neurosurg 2007 ;43(6):533-8

Department of Paediatric Neurology and Neurosurgery, Frenchay Hospital, Bristol, UK.

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http://dx.doi.org/10.1159/000108803DOI Listing
December 2007

Vincristine sulfate as a possible cause of optic neuropathy.

Pediatr Blood Cancer 2007 Feb;48(2):238-40

Departments of Paediatric Haematology and Oncology, Royal Hospital for Sick Children, Glasgow, United Kingdom.

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http://doi.wiley.com/10.1002/pbc.20638
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http://dx.doi.org/10.1002/pbc.20638DOI Listing
February 2007