Janssen AJ - Search Results

1

Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies.

Bentlage HA, Janssen AJ, Chomyn A, Attardi G, Walker JE, Schägger H, Sengers RC, Trijbels FJ. Bentlage HA, et al. Among authors: janssen aj. Biochim Biophys Acta. 1995 Mar 8;1234(1):63-73. doi: 10.1016/0005-2736(94)00288-z. Biochim Biophys Acta. 1995. PMID: 7533543 Free article.

2

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L. Loeffen J, et al. J Inherit Metab Dis. 1998 Jun;21(3):210-5. doi: 10.1023/a:1005339332062. J Inherit Metab Dis. 1998. PMID: 9686359 No abstract available.

3

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA. Sperl W, et al. Among authors: janssen aj. Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401. Eur J Pediatr. 1990. PMID: 2189731 Review.

4

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain.

Ruitenbeek W, Trijbels JM, Fischer JC, Sengers RC, Janssen AJ, Kerkhof CM. Ruitenbeek W, et al. Among authors: janssen aj. J Inherit Metab Dis. 1989;12 Suppl 2:352-4. doi: 10.1007/BF03335420. J Inherit Metab Dis. 1989. PMID: 2512442 No abstract available.

5

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.

Trijbels JM, Sengers RC, Ruitenbeek W, Fischer JC, Bakkeren JA, Janssen AJ. Trijbels JM, et al. Among authors: janssen aj. Eur J Pediatr. 1988 Nov;148(2):92-7. doi: 10.1007/BF00445910. Eur J Pediatr. 1988. PMID: 3069472 Review.

6

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

van Laack HL, Ruitenbeek W, Trijbels JM, Sengers RC, Gabreëls FJ, Janssen AJ, Kerkhof CM. van Laack HL, et al. Among authors: janssen aj. Clin Chim Acta. 1988 Jan 15;171(1):109-18. doi: 10.1016/0009-8981(88)90296-3. Clin Chim Acta. 1988. PMID: 3127087

7

Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.

Trijbels JM, Scholte HR, Ruitenbeek W, Sengers RC, Janssen AJ, Busch HF. Trijbels JM, et al. Among authors: janssen aj. Eur J Pediatr. 1993 Mar;152(3):178-84. doi: 10.1007/BF01956139. Eur J Pediatr. 1993. PMID: 8444240 Review.

8

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.

Bentlage HA, Wendel U, Schägger H, ter Laak HJ, Janssen AJ, Trijbels JM. Bentlage HA, et al. Among authors: janssen aj. Neurology. 1996 Jul;47(1):243-8. doi: 10.1212/wnl.47.1.243. Neurology. 1996. PMID: 8710086 Free article.

9

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.

Trijbels JM, Ruitenbeek W, Sengers RC, Janssen AJ, van Oost BA. Trijbels JM, et al. Among authors: janssen aj. J Inherit Metab Dis. 1996;19(2):149-52. doi: 10.1007/BF01799416. J Inherit Metab Dis. 1996. PMID: 8739952 No abstract available.

10

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Among authors: janssen aj. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.

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