Publications
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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Enns GM,
Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A.
N Engl J Med.
2007;
356
(22):
2282-92
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Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
Enns GM,
Bai RK, Beck AE, Wong LJ.
Mol Genet Metab.
2006;
88
(4):
364-71
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Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.
Enns GM,
O'Brien WE, Kobayashi K, Shinzawa H, Pellegrino JE.
Obstet Gynecol.
2005;
105
(5 Pt 2):
1244-6
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Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
Gallagher RC,
Cowan TM, Goodman SI, Enns GM.
Mol Genet Metab.
2005;
86
(3):
417-20
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Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.
Enns GM,
Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S.
Clin Genet.
2005;
68
(4):
337-48
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The contribution of mitochondria to common disorders.
Enns GM,
Mol Genet Metab.
2003 Sep-Oct;
80
(1-2):
11-26
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Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
Enns GM,
Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V, Freeze HH, O'brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L.
J Pediatr.
2002;
141
(5):
695-700
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Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Hintz SR,
Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM.
Mol Genet Metab.
2002;
75
(2):
120-7
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Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.
Westphal V,
Enns GM, McCracken MF, Freeze HH.
Mol Genet Metab.
2001;
73
(1):
71-6
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Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Enns GM,
Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S.
J Pediatr.
2000;
136
(2):
251-4
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Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population.
Enns GM,
Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, Eisensmith RC, Packman S.
Pediatr Res.
1999;
46
(5):
594-602
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A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
Mobley BC,
Enns GM, Wong LJ, Vogel H.
Clin Neuropathol.
2009 Mar-Apr;
28
(2):
143-9
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Mapping gene associations in human mitochondria using clinical disease phenotypes.
Scharfe C,
Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW.
PLoS Comput Biol.
2009;
5
(4):
e1000374
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Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Shieh JT,
Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM.
J Pediatr Gastroenterol Nutr.
2009;
49
(1):
130-2
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Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity.
Gramatges MM,
Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R.
Bone Marrow Transplant.
2009;
44
(7):
449-50
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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.
Atkuri KR,
Cowan TM, Kwan T, Ng A, Herzenberg LA, Herzenberg LA, Enns GM.
Proc Natl Acad Sci U S A.
2009;
106
(10):
3941-5
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Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy.
Yuan N,
El-Sayed YY, Ruoss SJ, Riley E, Enns GM, Robinson TE.
J Perinatol.
2009;
29
(2):
166-7
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Cell-based therapies for metabolic liver disease.
Enns GM,
Millan MT.
Mol Genet Metab.
2008 Sep-Oct;
95
(1-2):
3-10
-
Neurologic damage and neurocognitive dysfunction in urea cycle disorders.
Enns GM,
Semin Pediatr Neurol.
2008;
15
(3):
132-9
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Central nervous system therapy for lysosomal storage disorders.
Enns GM,
Huhn SL.
Neurosurg Focus.
2008;
24
(3-4):
E12
-
Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
Hou LC,
Veeravagu A, Hsu AR, Enns GM, Huhn SL.
J Neurosurg.
2007;
107
(2 Suppl):
167-72
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Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
Shieh JT,
Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE.
Pediatrics.
2006;
118
(5):
e1485-92
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Management of methylmalonic acidaemia by combined liver-kidney transplantation.
Nagarajan S,
Enns GM, Millan MT, Winter S, Sarwal MM.
J Inherit Metab Dis.
2005;
28
(4):
517-24
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Mild developmental delay in terminal chromosome 6p deletion.
Chen KM,
Cherry AM, Hahn JS, Enns GM.
Am J Med Genet A.
2004;
129A
(2):
201-5
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Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.
Enns GM,
Barkovich AJ, van Kuilenburg AB, Manning M, Sanger T, Witt DR, van Gennip AH.
J Inherit Metab Dis.
2004;
27
(4):
513-22
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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.
Manning MA,
Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE.
Pediatrics.
2004;
114
(2):
451-7
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Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
Adam MP,
Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE.
Am J Med Genet A.
2003;
123A
(1):
72-8
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The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.
Enns GM,
Packman W.
Adolesc Med.
2002;
13
(2):
315-29, vii
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Clinical course and biochemistry of sialuria.
Enns GM,
Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S.
J Inherit Metab Dis.
2001;
24
(3):
328-36
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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Enns GM,
Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S.
J Inherit Metab Dis.
1999;
22
(5):
599-607
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