Krywawych S - Search Results

1

DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.

Surendran S, Michals-Matalon K, Krywawych S, Qazi QH, Tuchman R, Rady PL, Tyring SK, Matalon R. Surendran S, et al. Among authors: krywawych s. Am J Med Genet. 2002 Dec 15;113(4):371-4. doi: 10.1002/ajmg.b.10804. Am J Med Genet. 2002. PMID: 12457410

2

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M. Patton MA, et al. Among authors: krywawych s. Am J Med Genet. 1987 Jan;26(1):207-15. doi: 10.1002/ajmg.1320260131. Am J Med Genet. 1987. PMID: 3812564

3

The adult presenting idiopathic Fanconi syndrome.

Brenton DP, Isenberg DA, Cusworth DC, Garrod P, Krywawych S, Stamp TC. Brenton DP, et al. Among authors: krywawych s. J Inherit Metab Dis. 1981;4(4):211-5. doi: 10.1007/BF02263654. J Inherit Metab Dis. 1981. PMID: 6796773

4

Hypophosphatasia.

Brenton DP, Krywawych S. Brenton DP, et al. Among authors: krywawych s. Clin Rheum Dis. 1986 Dec;12(3):771-89. Clin Rheum Dis. 1986. PMID: 3078782 Review. No abstract available.

5

Alkaptonuria.

Brenton DP, Krywawych S. Brenton DP, et al. Among authors: krywawych s. Clin Rheum Dis. 1986 Dec;12(3):755-69. Clin Rheum Dis. 1986. PMID: 3078781 Review. No abstract available.

6

3-Methyladipate excretion in Refsum's disease.

Brenton DP, Krywawych S. Brenton DP, et al. Among authors: krywawych s. Lancet. 1982 Mar 13;1(8272):624. doi: 10.1016/s0140-6736(82)91780-9. Lancet. 1982. PMID: 6174838 No abstract available.

7

Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.

Krywawych S, Katz G, Lawson AM, Wyatt S, Brenton DP. Krywawych S, et al. J Inherit Metab Dis. 1986;9(4):388-92. doi: 10.1007/BF01800490. J Inherit Metab Dis. 1986. PMID: 3031364

8

3-Methyladipate excretion in animals fed a phytol supplement with reference to Refsum's disease.

Krywawych S, Brenton DP, Jackson MJ, Forte C, Walker DK, Lawson AM. Krywawych S, et al. J Inherit Metab Dis. 1985;8 Suppl 2:147-8. doi: 10.1007/BF01811502. J Inherit Metab Dis. 1985. PMID: 2413274 No abstract available.

9

[Maternal phenylketonuria].

Brenton DP, Fraser D, Haseler ME, Krywawych S, Lachelin GC, Lilburn M, Stewart A. Brenton DP, et al. Among authors: krywawych s. Arch Fr Pediatr. 1987;44 Suppl 1:667-70. Arch Fr Pediatr. 1987. PMID: 3449011 French. No abstract available.

10

The effect of phytol upon skeletal muscle damage in vitamin E-deficient animals.

Krywawych S, Jackson MJ, Forte C, Garrod PJ, Walker DK, Brenton DP. Krywawych S, et al. J Inherit Metab Dis. 1985;8 Suppl 2:111-2. doi: 10.1007/BF01811483. J Inherit Metab Dis. 1985. PMID: 3930853 No abstract available.

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