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Items: 1 to 20 of 146

1.

Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.

Yýlmaz Y, Ozdemir N, Ekinci G, Baykal T, Kocaman C.

Pediatr Neurol. 2006 Aug;35(2):139-41.

PMID:
16876013
2.

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.

Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.

Pediatr Neurol. 2007 Jul;37(1):47-50.

PMID:
17628222
3.

Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report.

Ferris NJ, Tien RD.

Neuroradiology. 1993;35(7):559-60. No abstract available.

PMID:
8232893
4.

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Wanders RJ, Zoeters PH, Schutgens RB, de Klerk JB, Duran M, Wadman SK, van Sprang FJ, Hemmes AM, Voorbrood BS.

Clin Chim Acta. 1990 Aug 31;189(3):327-34.

PMID:
2225463
5.

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case.

Shilkin R, Wilson G, Owles E.

Acta Paediatr Scand. 1981 Mar;70(2):265-8.

PMID:
6112838
6.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Gibson KM, Breuer J, Nyhan WL.

Eur J Pediatr. 1988 Dec;148(3):180-6. Review.

PMID:
3063529
7.

[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].

Karcher C, Rousselot JM, Lefebvre E, Vidailhet M.

Pediatrie. 1993;48(5):385-7. French.

PMID:
7777393
8.

MRI and MRS in HMG-CoA lyase deficiency.

Yalçinkaya C, Dinçer A, Gündüz E, Fiçicioğlu C, Koçer N, Aydin A.

Pediatr Neurol. 1999 May;20(5):375-80. Review.

PMID:
10371384
9.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.

Reimão S, Morgado C, Almeida IT, Silva M, Corte Real H, Campos J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S49-52. doi: 10.1007/s10545-009-1048-5.

PMID:
19242819
10.

MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

van der Knaap MS, Bakker HD, Valk J.

AJNR Am J Neuroradiol. 1998 Feb;19(2):378-82.

11.

3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.

Köksal T, Gündüz M, Özaydın E, Azak E.

Indian J Pediatr. 2015 Jul;82(7):645-8. doi: 10.1007/s12098-015-1722-6.

PMID:
25708061
12.

Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.

Kikuchi M, Narisawa K, Tada K, Sweetman L.

Clin Chim Acta. 1990 Aug 31;189(3):297-301.

PMID:
2225461
13.
14.

A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

Marklová E, Verner P, Pehal F, Brátová M, Polák J.

J Inherit Metab Dis. 1987;10(4):399. No abstract available.

PMID:
3126361
15.

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Wysocki SJ, Hähnel R.

J Inherit Metab Dis. 1986;9(3):225-33.

PMID:
3099065
16.

[3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].

Koling S, Kalhoff H, Schauerte P, Lehnert W, Diekmann L.

Klin Padiatr. 2000 May-Jun;212(3):113-6. Review. German.

PMID:
10916782
17.

[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].

Eirís J, Ribes A, Fernández-Prieto R, Rodríguez-García J, Rodríguez-Segade S, Castro-Gago M.

Rev Neurol. 1998 Jun;26(154):911-4. Spanish.

PMID:
9658458
18.

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM.

Ann Neurol. 1986 Sep;20(3):367-9.

PMID:
3767322
19.

3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

Wysocki SJ, Hähnel R.

Clin Chim Acta. 1976 Sep 6;71(2):349-51.

PMID:
963901
20.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

Gibson KM, Breuer J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, et al.

J Inherit Metab Dis. 1988;11(1):76-87.

PMID:
3128690
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