F Lorey
Overview
Explore the profile of F Lorey including associated specialties, affiliations and a list of published articles.
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20
Citations
278
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0
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Recent Articles
1.
Gallant N, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, et al.
Mol Genet Metab
. 2017 Jul;
122(3):76-84.
PMID: 28711408
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood...
2.
Puckett R, Orsini J, Pastores G, Wang R, Chang R, Saavedra-Matiz C, et al.
Mol Genet Metab
. 2011 Nov;
105(1):126-31.
PMID: 22115770
Purpose: To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. Methods:...
3.
Lin H, Kwong A, Carter J, Ferreira B, Austin M, Devarajan K, et al.
J Perinatol
. 2011 Jun;
31(7):507-10.
PMID: 21712831
A 1890-g newborn on total parenteral nutrition (TPN) had phenylalanine levels reaching 4164 μM indicating phenylketonuria (PKU). Review of 64 PKU cases from the California Newborn Screening Program disclosed another...
4.
Leydiker K, Neidich J, Lorey F, Barr E, Puckett R, Lobo R, et al.
Mol Genet Metab
. 2011 Mar;
103(1):92-5.
PMID: 21354840
Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem...
5.
Puckett R, Lorey F, Rinaldo P, Lipson M, Matern D, Sowa M, et al.
Mol Genet Metab
. 2010 Mar;
100(2):136-42.
PMID: 20307994
Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has allowed for early detection and initiation of treatment in many patients with maple syrup urine disease (MSUD) (OMIM 248600), however, a...
6.
Vasconcelos G, Kang M, Pombo-de-Oliveira M, Schiffman J, Lorey F, Buffler P, et al.
Br J Cancer
. 2008 Nov;
99(10):1668-72.
PMID: 19002185
Archived neonatal blood cards (Guthrie cards) from children who later contracted leukaemia and matched normal controls were assayed for adenovirus (AdV) C DNA content using two highly sensitive methods. In...
7.
Lorey F, Charoenkwan P, Witkowska H, Lafferty J, Patterson M, Eng B, et al.
Br J Haematol
. 2001 Nov;
115(1):72-8.
PMID: 11722414
Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three alpha-globin genes, leaving only one intact and active alpha-globin gene. People with Hb H disease usually have...
8.
Lorey F, Cunningham G, Vichinsky E, Lubin B, Witkowska H, Matsunaga A, et al.
Genet Test
. 2001 Sep;
5(2):93-100.
PMID: 11551109
Newborn screening is an accepted public health measure to ensure that appropriate health care is provided in a timely manner to infants with hereditary/metabolic disorders. Alpha-thalassemia is a common hemoglobin...
9.
Lorey F
J Pediatr Hematol Oncol
. 2000 Dec;
22(6):564-6.
PMID: 11132231
Purpose: This study reviews Asian immigration in California and the effect it has had on public health in the state in terms of genetic disease detection. This is documented in...
10.
Eastman J, Sherwin J, Wong R, Liao C, Currier R, Lorey F, et al.
J Med Screen
. 2000 Dec;
7(3):131-5.
PMID: 11126161
Objective: To assess the benefits of using the phenylalanine:tyrosine ratio to screen newborns for phenylketonuria (PKU). Setting: Data were collected from all newborns in California during a ten month period...