Abstract：
:Many adult patients with phenylketonuria (PKU) are no longer receiving treatment for their disorder despite mounting evidence that elevated blood phenylalanine levels are associated with impairments of brain function manifested by neurocognitive deficits and psychiatric symptoms. An outreach program was established in a single PKU clinic with the goal of bringing "wayward" adults back into treatment. In a clinic with 152 active patients, another 162 records were identified of patients who had been previously treated and had not transferred to another clinic. 47 of these patients could not be located. Of the remaining 115, a total of 63 were re-engaged and received education, either through individual telephone encounters or attendance at adult educational programs. Thus far, 21 patients have returned to treatment. Obstacles to treatment for many patients include inadequate insurance coverage and lack of understanding of the significance of the diagnosis of PKU among patients off treatment for many years. The social, emotional and psychiatric symptoms of the disorder itself are perhaps the greatest barrier to successful re-introduction to treatment. This experience confirms that there are large numbers of adult patients with PKU who are not currently receiving any care for their disorder. Reaching them and re-engaging them in treatment will be a significant challenge and will require a multifaceted effort.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Burton BK,Leviton Ldoi
10.1016/j.ymgme.2010.06.006subject
Has Abstractpub_date
2010-10-01 00:00:00pages
146-8issue
2-3eissn
1096-7192issn
1096-7206pii
S1096-7192(10)00226-Xjournal_volume
101pub_type
杂志文章abstract：BACKGROUND:A common follicle-stimulating hormone (FSH) receptor (or FSHR) polymorphism Ser680Asn (rs6166) was found to be associated with altered ovarian response in women undergoing in-vitro fertilization. To further investigate such an association, a meta-analysis was conducted. METHODS:A PubMed literature search wa...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,meta分析
doi：10.1016/j.ymgme.2011.04.005
更新日期：2011-08-01 00:00:00
abstract：:The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 ...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1006/mgme.1999.2820
更新日期：1999-04-01 00:00:00
abstract：:Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2007.06.006
更新日期：2007-09-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2015.05.001
更新日期：2015-06-01 00:00:00
abstract：:Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyz...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2010.04.001
更新日期：2010-07-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1006/mgme.2001.3282
更新日期：2002-02-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2003.09.014
更新日期：2004-01-01 00:00:00
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pub_type： 杂志文章,随机对照试验
doi：10.1016/j.ymgme.2019.12.008
更新日期：2020-02-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2017.05.015
更新日期：2017-07-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,评审
doi：10.1006/mgme.2000.3071
更新日期：2000-09-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2006.08.011
更新日期：2007-02-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1006/mgme.1998.2699
更新日期：1998-05-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,评审
doi：10.1016/j.ymgme.2017.09.009
更新日期：2017-11-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2011.08.026
更新日期：2011-12-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2011.04.004
更新日期：2011-08-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 临床试验,杂志文章
doi：10.1016/j.ymgme.2004.03.003
更新日期：2004-06-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2011.08.020
更新日期：2011-12-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1006/mgme.1999.2814
更新日期：1999-04-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,评审
doi：10.1016/j.ymgme.2003.08.023
更新日期：2003-09-01 00:00:00
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pub_type： 杂志文章,评审
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更新日期：2003-02-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,评审
doi：10.1006/mgme.2002.3303
更新日期：2002-03-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1006/mgme.2000.3105
更新日期：2001-01-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2005.02.010
更新日期：2005-06-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2013.04.017
更新日期：2013-07-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2010.05.012
更新日期：2010-09-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章,评审
doi：10.1016/j.ymgme.2011.08.023
更新日期：2011-01-01 00:00:00
abstract：:In humans, deficiency of galactose-1-phosphate uridyltransferase (GALT) can lead a metabolic disorder Classic Galactosemia. Although the biochemical abnormalities associated with this disease have been described in detail, few attempts have been made to characterize the pathogenic mechanisms of this disorder at the mo...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2005.08.002
更新日期：2005-11-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2008.03.013
更新日期：2008-07-01 00:00:00
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journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2015.08.001
更新日期：2016-02-01 00:00:00
abstract：:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were ide...
journal_title：Molecular genetics and metabolism
pub_type： 杂志文章
doi：10.1016/j.ymgme.2011.04.002
更新日期：2011-07-01 00:00:00
