Enns GM - Search Results

1

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. Enns GM, et al. J Pediatr. 2000 Feb;136(2):251-4. doi: 10.1016/s0022-3476(00)70111-9. J Pediatr. 2000. PMID: 10657835

2

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.

Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Enns GM, et al. Am J Med Genet. 1998 Sep 23;79(3):215-25. Am J Med Genet. 1998. PMID: 9788565 Review.

3

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. Ewart-Toland A, et al. Among authors: enns gm. Am J Med Genet. 1998 Dec 4;80(4):362-7. Am J Med Genet. 1998. PMID: 9856564

4

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. Enns GM, et al. J Inherit Metab Dis. 1999 Jun;22(5):599-607. doi: 10.1023/a:1005517727451. J Inherit Metab Dis. 1999. PMID: 10399092

5

Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?

Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M. Enns GM, et al. Am J Med Genet. 1999 Sep 17;86(3):237-41. Am J Med Genet. 1999. PMID: 10482872 Review.

6

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. Enns GM, et al. Pediatr Res. 1999 Nov;46(5):594-602. doi: 10.1203/00006450-199911000-00017. Pediatr Res. 1999. PMID: 10541324

7

Clinical course and biochemistry of sialuria.

Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Enns GM, et al. J Inherit Metab Dis. 2001 Jun;24(3):328-36. doi: 10.1023/a:1010588115479. J Inherit Metab Dis. 2001. PMID: 11486897

8

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. Hintz SR, et al. Among authors: enns gm. Mol Genet Metab. 2002 Feb;75(2):120-7. doi: 10.1006/mgme.2001.3282. Mol Genet Metab. 2002. PMID: 11855930

9

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. Enns GM, et al. J Pediatr. 2002 Nov;141(5):695-700. doi: 10.1067/mpd.2002.128658. J Pediatr. 2002. PMID: 12410200

10

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. Manning MA, et al. Among authors: enns gm. Pediatrics. 2004 Aug;114(2):451-7. doi: 10.1542/peds.114.2.451. Pediatrics. 2004. PMID: 15286229

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