Smit LM - Search Results

1

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil.

Benders AA, Veerkamp JH, Oosterhof A, Jongen PJ, Bindels RJ, Smit LM, Busch HF, Wevers RA. Benders AA, et al. Among authors: smit lm. J Clin Invest. 1994 Aug;94(2):741-8. doi: 10.1172/JCI117393. J Clin Invest. 1994. PMID: 8040329 Free PMC article.

2

Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy.

Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels FJ, Smit LM, ter Laak HJ, van den Heuvel LP. Huizing M, et al. Among authors: smit lm. Pediatr Res. 1996 May;39(5):760-5. doi: 10.1203/00006450-199605000-00003. Pediatr Res. 1996. PMID: 8726225 Free article.

3

Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis.

Leschot NJ, Wilmsen-Linders EJ, van Geijn HP, Samsom JF, Smit LM. Leschot NJ, et al. Among authors: smit lm. Clin Genet. 1988 Aug;34(2):135-9. doi: 10.1111/j.1399-0004.1988.tb02849.x. Clin Genet. 1988. PMID: 3056641 Review.

4

Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies.

Spaans F, Theunissen P, Reekers AD, Smit L, Veldman H. Spaans F, et al. Muscle Nerve. 1990 Jun;13(6):516-27. doi: 10.1002/mus.880130608. Muscle Nerve. 1990. PMID: 2366824

5

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Among authors: smit lm. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

6

Zellweger syndrome in a preterm, small for gestational age infant.

Samsom JF, Jakobs C, van de Klei-van Moorsel J, Smit LM, Schutgens RB, Wanders RJ. Samsom JF, et al. Among authors: smit lm. J Inherit Metab Dis. 1992;15(1):75-83. doi: 10.1007/BF01800347. J Inherit Metab Dis. 1992. PMID: 1583879

7

A new case of dihydropyrimidine dehydrogenase deficiency.

Brockstedt M, Jakobs C, Smit LM, van Gennip AH, Berger R. Brockstedt M, et al. Among authors: smit lm. J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339. J Inherit Metab Dis. 1990. PMID: 2109146

8

Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency.

de Grauw TJ, Smit LM, Brockstedt M, Meijer Y, vd Klei-von Moorsel J, Jakobs C. de Grauw TJ, et al. Among authors: smit lm. Neuropediatrics. 1990 Aug;21(3):133-5. doi: 10.1055/s-2008-1071479. Neuropediatrics. 1990. PMID: 2234317

9

A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome.

Smit LM, Hageman G, Veldman H, Molenaar PC, Oen BS, Jennekens FG. Smit LM, et al. Muscle Nerve. 1988 Apr;11(4):337-48. doi: 10.1002/mus.880110410. Muscle Nerve. 1988. PMID: 3398881

10

Morphological changes in the human end plate with age.

Wokke JH, Jennekens FG, van den Oord CJ, Veldman H, Smit LM, Leppink GJ. Wokke JH, et al. Among authors: smit lm. J Neurol Sci. 1990 Mar;95(3):291-310. doi: 10.1016/0022-510x(90)90076-y. J Neurol Sci. 1990. PMID: 2358822

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