G M Enns
Overview
Explore the profile of G M Enns including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
403
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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.
Vockley J, Charrow J, Ganesh J, Eswara M, Diaz G, McCracken E, et al.
Mol Genet Metab
. 2016 Sep;
119(3):223-231.
PMID: 27590926
Long-chain fatty acid oxidation disorders (LC-FAOD) can cause cardiac hypertrophy and cardiomyopathy, often presenting in infancy, typically leading to death or heart transplant despite ongoing treatment. Previous data on triheptanoin...
3.
Enns G, Koch R, Brumm V, Blakely E, Suter R, Jurecki E
Mol Genet Metab
. 2010 Aug;
101(2-3):99-109.
PMID: 20678948
Background: The National Institute of Health (NIH) published a Consensus Statement on the screening and management of Phenylketonuria (PKU) in 2000. The panel involved in the development of this consensus...
4.
Mobley B, Enns G, Wong L, Vogel H
Clin Neuropathol
. 2009 Apr;
28(2):143-9.
PMID: 19353847
Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date...
5.
Gramatges M, Dvorak C, Regula D, Enns G, Weinberg K, Agarwal R
Bone Marrow Transplant
. 2009 Mar;
44(7):449-50.
PMID: 19308038
No abstract available.
6.
Yuan N, El-Sayed Y, Ruoss S, Riley E, Enns G, Robinson T
J Perinatol
. 2009 Jan;
29(2):166-7.
PMID: 19177045
We report a case study of a 22-year-old woman with mitochondrial thymidine kinase 2 deficiency and chronic respiratory failure due to severe neuromuscular weakness requiring noninvasive positive pressure ventilation (NIPPV)...
7.
Dimmock D, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang L, et al.
Hum Mutat
. 2008 Jan;
29(2):330-1.
PMID: 18205204
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15...
8.
Enns G, Hoppel C, DeArmond S, Schelley S, Bass N, Weisiger K, et al.
Clin Genet
. 2005 Sep;
68(4):337-48.
PMID: 16143021
Variation in the size and relative proportion of type 1 and type 2 muscle fibers can occur in a number of conditions, including structural myopathies, neuropathies, and various syndromes. In...
9.
Nagarajan S, Enns G, Millan M, Winter S, Sarwal M
J Inherit Metab Dis
. 2005 May;
28(4):517-24.
PMID: 15902554
Methylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy with recurrent episodes of metabolic acidosis, developmental delay and failure to thrive. The...
10.
Enns G, Barkovich A, van Kuilenburg A, Manning M, Sanger T, Witt D, et al.
J Inherit Metab Dis
. 2004 Aug;
27(4):513-22.
PMID: 15303009
Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of pyrimidine metabolism. Patients may present with a wide range of neurological symptoms during the first years of life. Head...