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Items: 1 to 50 of 133

1.

Long-term follow-up of four patients affected by HHH syndrome.

Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE.

Clin Chim Acta. 2012 Jul 11;413(13-14):1151-5. doi: 10.1016/j.cca.2012.03.015. Epub 2012 Mar 23.

PMID:
22465082
2.

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.

Ficicioglu C, Mandell R, Shih VE.

Mol Genet Metab. 2009 Nov;98(3):273-7. doi: 10.1016/j.ymgme.2009.06.011. Epub 2009 Jun 25.

3.

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB.

Pediatrics. 2008 May;121(5):e1108-14. doi: 10.1542/peds.2007-1993.

PMID:
18450854
4.

Alternative-pathway therapy for hyperammonemia.

Shih VE.

N Engl J Med. 2007 May 31;356(22):2321-2. No abstract available.

PMID:
17538092
5.

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K.

J Child Neurol. 2006 Sep;21(9):801-5.

PMID:
16970890
6.

Pericardial effusion in primary systemic carnitine deficiency.

Wattanasirichaigoon D, Khowsathit P, Visudtibhan A, Suthutvoravut U, Charoenpipop D, Kim SZ, Levy HL, Shih VE.

J Inherit Metab Dis. 2006 Aug;29(4):589. Epub 2006 Jul 8.

PMID:
16830263
7.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.

Am J Med Genet A. 2006 May 1;140(9):1004-9.

PMID:
16575891
8.

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.

Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE.

Obstet Gynecol. 2006 Jan;107(1):115-20.

PMID:
16394048
9.

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT.

J Inherit Metab Dis. 2005;28(5):673-9.

PMID:
16151897
10.

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE.

Pediatrics. 2005 Sep;116(3):757-66. Review. Erratum in: Pediatrics. 2005 Dec;116(6):1615.

PMID:
16140720
11.

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Stoler JM, Sabry MA, Hanley C, Hoppel CL, Shih VE.

J Inherit Metab Dis. 2004;27(5):679-84.

PMID:
15669684
12.

Inflammation, homocysteine, and vitamin B6 status after ischemic stroke.

Kelly PJ, Kistler JP, Shih VE, Mandell R, Atassi N, Barron M, Lee H, Silveira S, Furie KL.

Stroke. 2004 Jan;35(1):12-5. Epub 2003 Dec 4.

PMID:
14657454
13.

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL.

JAMA. 2003 Nov 19;290(19):2564-72.

PMID:
14625333
14.

Low vitamin B6 but not homocyst(e)ine is associated with increased risk of stroke and transient ischemic attack in the era of folic acid grain fortification.

Kelly PJ, Shih VE, Kistler JP, Barron M, Lee H, Mandell R, Furie KL.

Stroke. 2003 Jun;34(6):e51-4. Epub 2003 May 8.

PMID:
12738890
15.

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF.

J Pediatr. 2003 Mar;142(3):349-52.

PMID:
12640389
16.

Newborn screening compared to clinical identification of biochemical genetic disorders.

Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL; New England Consortium of Metabolic Programs.

J Inherit Metab Dis. 2002 Nov;25(7):599-600.

PMID:
12638945
17.

Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, Shih VE.

Neurology. 2003 Jan 28;60(2):275-9.

PMID:
12552044
18.

Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP.

J Inherit Metab Dis. 2002 Aug;25(4):299-314.

PMID:
12227460
19.

Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis.

Kelly PJ, Rosand J, Kistler JP, Shih VE, Silveira S, Plomaritoglou A, Furie KL.

Neurology. 2002 Aug 27;59(4):529-36.

PMID:
12196644
20.

Vascular endothelial function in cyclosporine and tacrolimus treated renal transplant recipients.

Ovuworie CA, Fox ER, Chow CM, Pascual M, Shih VE, Picard MH, Tolkoff-Rubin NE.

Transplantation. 2001 Oct 27;72(8):1385-8.

PMID:
11685108
21.

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF.

Clin Chem. 2001 Nov;47(11):1945-55.

22.

New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry.

Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL.

J Inherit Metab Dis. 2001 Apr;24(2):303-4. No abstract available.

PMID:
11405349
23.

Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.

Takeoka M, Soman TB, Shih VE, Caviness VS Jr, Krishnamoorthy KS.

Pediatr Neurol. 2001 Mar;24(3):193-9.

PMID:
11301219
24.

Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q.

Huang T, Yang W, Pereira AC, Craigen WJ, Shih VE.

Biochem Biophys Res Commun. 2000 Feb 16;268(2):298-301.

PMID:
10679197
25.

Ornithine carbamoyltransferase deficiency: unusual clinical findings and novel mutation.

Shih VE, Safran AP, Ropper AH, Tuchman M.

J Inherit Metab Dis. 1999 Jun;22(5):672-3. No abstract available.

PMID:
10399103
26.

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE.

Mol Genet Metab. 1998 Apr;63(4):254-62.

PMID:
9635293
27.

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

Zammarchi E, Ciani F, Pasquini E, Buonocore G, Shih VE, Donati MA.

J Pediatr. 1997 Sep;131(3):440-3. Erratum in: J Pediatr 1998 Apr;132(4):747. Bonocore G [corrected to Buonocore G].

PMID:
9329423
28.

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Mandell R, Packman S, Laframboise R, Golbus MS, Schmidt K, Workman L, Saudubray JM, Shih VE.

Prenat Diagn. 1996 May;16(5):419-24.

PMID:
8843999
29.

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V.

Am J Hum Genet. 1995 Jul;57(1):34-9.

30.

Organ donation by a maple syrup urine disease patient.

Shih VE, Stewart B.

J Inherit Metab Dis. 1995;18(3):367. No abstract available.

PMID:
7474912
31.

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE.

Hum Mol Genet. 1993 Nov;2(11):1857-60.

PMID:
7506602
32.

Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.

Park JK, Herron BJ, O'Donnell JJ, Shih VE, Ramesh V.

Genomics. 1992 Oct;14(2):553-4. No abstract available.

PMID:
1427882
33.

An antispasticity effect of threonine in multiple sclerosis.

Hauser SL, Doolittle TH, Lopez-Bresnahan M, Shahani B, Schoenfeld D, Shih VE, Growdon J, Lehrich JR.

Arch Neurol. 1992 Sep;49(9):923-6.

PMID:
1520082
34.

Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.

Shih VE, Laframboise R, Mandell R, Pichette J.

Prenat Diagn. 1992 Sep;12(9):717-23. No abstract available.

PMID:
1438066
35.

Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.

Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE.

Clin Genet. 1992 Apr;41(4):202-5.

PMID:
1349518
36.

Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.

Ramesh V, Cheng SV, Kozak CA, Herron BJ, Shih VE, Taylor BA, Gusella JF.

Mamm Genome. 1992;3(1):17-22.

PMID:
1349842
37.

A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.

Park JK, O'Donnell JJ, Shih VE, Gusella JF, Ramesh V.

Hum Mutat. 1992;1(4):293-7.

PMID:
1301936
38.

Gyrate atrophy of the choroid and retina in a 5-year-old girl.

Mehta MC, Katsumi O, Shih VE, Hirose T.

Acta Ophthalmol (Copenh). 1991 Dec;69(6):810-4.

PMID:
1789102
39.
40.

Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.

Kvedar JC, Baden HP, Baden LA, Shih VE, Kolodny EH.

Am J Med Genet. 1991 Aug 1;40(2):211-3.

PMID:
1897577
41.

Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.

Ramesh V, Gusella JF, Shih VE.

Mol Biol Med. 1991 Feb;8(1):81-93. Review.

PMID:
1682785
42.

Aminoaciduria due to vinyl-GABA administration.

Shih VE, Tenanbaum A.

N Engl J Med. 1990 Nov 8;323(19):1353. No abstract available.

PMID:
2215628
43.

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V.

Am J Hum Genet. 1990 Nov;47(5):790-4.

44.
45.

Brain glutamate metabolism during hypoxia and peripheral chemodenervation.

Hoop B, Masjedi MR, Shih VE, Kazemi H.

J Appl Physiol (1985). 1990 Jul;69(1):147-54.

PMID:
1975573
46.

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

Shih VE, Axel SM, Tewksbury JC, Watkins D, Cooper BA, Rosenblatt DS.

Am J Med Genet. 1989 Aug;33(4):555-63.

PMID:
2596518
48.

Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Chadefaux B, Bonnefont JP, Rabier D, Shih VE, Saudubray JM, Kamoun P.

Am J Med Genet. 1989 Feb;32(2):264. No abstract available.

PMID:
2929667
50.

Central respiratory effects of glutamine synthesis inhibition in dogs.

Hoop B, Systrom DM, Shih VE, Kazemi H.

J Appl Physiol (1985). 1988 Sep;65(3):1099-109.

PMID:
2903134

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