Mak SC - Search Results

1

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

Santorelli FM, Mak SC, Vàzquez-Acevedo M, González-Astiazarán A, Ridaura-Sanz C, González-Halphen D, DiMauro S. Santorelli FM, et al. Among authors: mak sc. Biochem Biophys Res Commun. 1995 Nov 22;216(3):835-40. doi: 10.1006/bbrc.1995.2697. Biochem Biophys Res Commun. 1995. PMID: 7488201

2

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Santorelli FM, et al. Among authors: mak sc. Am J Hum Genet. 1996 May;58(5):933-9. Am J Hum Genet. 1996. PMID: 8651277 Free PMC article.

3

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

Santorelli FM, Mak SC, Vazquez-Memije ME, Shanske S, Kranz-Eble P, Jain KD, Bluestone DL, De Vivo DC, DiMauro S. Santorelli FM, et al. Among authors: mak sc. Pediatr Res. 1996 May;39(5):914-7. doi: 10.1203/00006450-199605000-00028. Pediatr Res. 1996. PMID: 8726250

4

Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers.

Mak SC, Chi CS, Liu CY, Pang CY, Wei YH. Mak SC, et al. Pediatr Neurol. 1996 Jul;15(1):72-5. doi: 10.1016/0887-8994(96)00126-9. Pediatr Neurol. 1996. PMID: 8858707

5

Oral glucose lactate stimulation test in mitochondrial disease.

Chi CS, Mak SC, Shian WJ, Chen CH. Chi CS, et al. Among authors: mak sc. Pediatr Neurol. 1992 Nov-Dec;8(6):445-9. doi: 10.1016/0887-8994(92)90007-l. Pediatr Neurol. 1992. PMID: 1476574

6

Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case.

Mak SC, Chi CS, Chen CH. Mak SC, et al. Zhonghua Yi Xue Za Zhi (Taipei). 1991 Jan;47(1):54-8. Zhonghua Yi Xue Za Zhi (Taipei). 1991. PMID: 1848464

7

Leigh syndrome with progressive ventriculomegaly.

Chi CS, Mak SC, Shian WJ. Chi CS, et al. Among authors: mak sc. Pediatr Neurol. 1994 May;10(3):244-6. doi: 10.1016/0887-8994(94)90032-9. Pediatr Neurol. 1994. PMID: 8060429

8

Intramyelin splitting in the spongiform lesions of Leigh syndrome.

Shian WJ, Chi CS, Mak SC. Shian WJ, et al. Among authors: mak sc. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jul-Aug;34(4):308-13. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993. PMID: 8213162

9

MRI of sequela of transverse myelitis.

Shen WC, Lee SK, Ho YJ, Lee KR, Mak SC, Chi CS. Shen WC, et al. Among authors: mak sc. Pediatr Radiol. 1992;22(5):382-3. doi: 10.1007/BF02016264. Pediatr Radiol. 1992. PMID: 1408453

10

[Infantile bilateral necrosis of the striatum of corpus: report of four cases].

Shian WJ, Chi CS, Mak SC. Shian WJ, et al. Among authors: mak sc. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 May-Jun;33(3):231-8. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992. PMID: 1514418 Chinese.

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