Gutman A - Search Results

1

Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.

Colin AA, Jaffe M, Shapira Y, Ne'eman Z, Gutman A, Korman S. Colin AA, et al. Among authors: gutman a. Arch Dis Child. 1987 Nov;62(11):1170-2. doi: 10.1136/adc.62.11.1170. Arch Dis Child. 1987. PMID: 3688923 Free PMC article.

2

Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

Shahar E, Brand N, Shapira Y, Barash V, Gutman A. Shahar E, et al. Among authors: gutman a. J Neurol Neurosurg Psychiatry. 1988 Feb;51(2):298-300. doi: 10.1136/jnnp.51.2.298. J Neurol Neurosurg Psychiatry. 1988. PMID: 3346699 Free PMC article.

3

Infantile idiopathic myopathic carnitine deficiency: treatment with L-carnitine.

Shapira Y, Glick B, Harel S, Vattin JJ, Gutman A. Shapira Y, et al. Among authors: gutman a. Pediatr Neurol. 1993 Jan-Feb;9(1):35-8. doi: 10.1016/0887-8994(93)90007-y. Pediatr Neurol. 1993. PMID: 8452598

4

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Among authors: gutman a. J Inherit Metab Dis. 2007 Apr;30(2):266. doi: 10.1007/s10545-007-0536-8. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372854

5

Muscle carnitine deficiency in patients using valproic acid.

Shapira Y, Gutman A. Shapira Y, et al. Among authors: gutman a. J Pediatr. 1991 Apr;118(4 Pt 1):646-9. doi: 10.1016/s0022-3476(05)83396-7. J Pediatr. 1991. PMID: 2007943 No abstract available.

6

Muscle carnitine deficiency in neurogenic atrophy.

Amit R, Gutman A, Shapira Y. Amit R, et al. Among authors: gutman a. Muscle Nerve. 1989 Mar;12(3):245-6. doi: 10.1002/mus.880120314. Muscle Nerve. 1989. PMID: 2725555 No abstract available.

7

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2005 Nov;86(3):337-43. doi: 10.1016/j.ymgme.2005.07.022. Epub 2005 Sep 16. Mol Genet Metab. 2005. PMID: 16146704

8

Hypocarnitinemia in lysinuric protein intolerance.

Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A. Korman SH, et al. Among authors: gutman a. Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. Mol Genet Metab. 2002. PMID: 12175786

9

Phenotype and genotype variation in primary carnitine deficiency.

Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N. Wang Y, et al. Among authors: gutman a. Genet Med. 2001 Nov-Dec;3(6):387-92. doi: 10.1097/00125817-200111000-00002. Genet Med. 2001. PMID: 11715001 Free article.

10

Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia).

Korman SH, Gutman A. Korman SH, et al. Among authors: gutman a. Dev Med Child Neurol. 2002 Oct;44(10):712-20. doi: 10.1017/s0012162201002808. Dev Med Child Neurol. 2002. PMID: 12418798 Free article. No abstract available.

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