Uziel G - Search Results

1

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.

Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M. Uziel G, et al. Pediatr Neurol. 1995 Nov;13(4):333-5. doi: 10.1016/0887-8994(95)00187-5. Pediatr Neurol. 1995. PMID: 8771170

2

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Moroni I, et al. Among authors: uziel g. Neurol Sci. 2000 Apr;21(2):103-8. doi: 10.1007/s100720070104. Neurol Sci. 2000. PMID: 10938189

3

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Among authors: uziel g. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.

4

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. D'Incerti L, et al. Among authors: uziel g. Neuroradiology. 1998 Nov;40(11):727-33. doi: 10.1007/s002340050673. Neuroradiology. 1998. PMID: 9860123

5

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. Bizzi A, et al. Among authors: uziel g. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

6

Effects of riboflavin in children with complex II deficiency.

Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, Uziel G. Bugiani M, et al. Among authors: uziel g. Brain Dev. 2006 Oct;28(9):576-81. doi: 10.1016/j.braindev.2006.04.001. Epub 2006 Jun 5. Brain Dev. 2006. PMID: 16737791 Clinical Trial.

7

Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.

Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S. Garavaglia B, et al. Among authors: uziel g. Neurology. 1991 Oct;41(10):1691-3. doi: 10.1212/wnl.41.10.1691. Neurology. 1991. PMID: 1922823

8

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S. Gellera C, et al. Among authors: uziel g. Neurology. 1990 Mar;40(3 Pt 1):495-9. doi: 10.1212/wnl.40.3_part_1.495. Neurology. 1990. PMID: 2314594

9

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.

DiDonato S, Gellera C, Peluchetti D, Uziel G, Antonelli A, Lus G, Rimoldi M. DiDonato S, et al. Among authors: uziel g. Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510. Ann Neurol. 1989. PMID: 2774489

10

Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G. Garavaglia B, et al. Among authors: uziel g. J Inherit Metab Dis. 1994;17(3):301-3. doi: 10.1007/BF00711813. J Inherit Metab Dis. 1994. PMID: 7807937 No abstract available.

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