Stephanie J Sacharow
Overview
Explore the profile of Stephanie J Sacharow including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
113
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0
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Recent Articles
1.
Christ S, Clocksin H, Zalik M, Goodlett B, Sacharow S, Abbene E
Mol Genet Metab
. 2023 Apr;
139(1):107579.
PMID: 37099821
Among researchers and clinicians, there is a call for the development and validation of new measures to better assess and characterize neurocognitive difficulties associated with early-treated phenylketonuria (ETPKU) and other...
2.
Puurunen M, Vockley J, Searle S, Sacharow S, Phillips 3rd J, Denney W, et al.
Nat Metab
. 2022 Aug;
4(9):1214.
PMID: 35974248
No abstract available.
3.
Puurunen M, Vockley J, Searle S, Sacharow S, Phillips 3rd J, Denney W, et al.
Nat Metab
. 2021 Jul;
3(8):1125-1132.
PMID: 34294923
Phenylketonuria (PKU) is a rare disease caused by biallelic mutations in the PAH gene that result in an inability to convert phenylalanine (Phe) to tyrosine, elevated blood Phe levels and...
4.
Sacharow S, Dudenhausen E, Lomelino C, Rodan L, El Achkar C, Olson H, et al.
Mol Genet Metab
. 2017 Dec;
123(3):317-325.
PMID: 29279279
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and...
5.
Hedges D, Hamilton-Nelson K, Sacharow S, Nations L, Beecham G, Kozhekbaeva Z, et al.
Mol Autism
. 2012 Apr;
3:2.
PMID: 22472195
Background: Autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders characterized by a core set of social-communicative and behavioral impairments. Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in...
6.
Liewluck T, Sacharow S, Fan Y, Lopez-Alberola R
J Child Neurol
. 2011 May;
26(8):1005-8.
PMID: 21572057
Arthrogryposis is a rare congenital disorder characterized by multiple fixed joint contractures. Decreased fetal movement, regardless of etiology, causes an immobilization of the affected joints and subsequent contractures. Amyoplasia refers...
7.
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis
Griswold A, Ma D, Sacharow S, Robinson J, Jaworski J, Wright H, et al.
Autism Res
. 2011 Mar;
4(3):221-7.
PMID: 21360829
Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the...