Suormala TM - Search Results

1

A biotinidase Km variant causing late onset bilateral optic neuropathy.

Ramaekers VT, Suormala TM, Brab M, Duran R, Heimann G, Baumgartner ER. Ramaekers VT, et al. Among authors: suormala tm. Arch Dis Child. 1992 Jan;67(1):115-9. doi: 10.1136/adc.67.1.115. Arch Dis Child. 1992. PMID: 1739323 Free PMC article.

2

Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.

Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S. Suormala TM, et al. J Inherit Metab Dis. 1990;13(1):76-92. doi: 10.1007/BF01799335. J Inherit Metab Dis. 1990. PMID: 2109151

3

[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].

Nothjunge J, Krägeloh-Mann I, Suormala TM, Baumgartner ER. Nothjunge J, et al. Among authors: suormala tm. Monatsschr Kinderheilkd. 1989 Nov;137(11):737-40. Monatsschr Kinderheilkd. 1989. PMID: 2608075 German.

4

Detection of biocytin in urine of children with congenital biotinidase deficiency.

Bonjour JP, Bausch J, Suormala T, Baumgartner ER. Bonjour JP, et al. Int J Vitam Nutr Res. 1984;54(2-3):223-31. Int J Vitam Nutr Res. 1984. PMID: 6438010

5

Biotinidase Km-variants: detection and detailed biochemical investigations.

Suormala T, Ramaekers VT, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER. Suormala T, et al. J Inherit Metab Dis. 1995;18(6):689-700. doi: 10.1007/BF02436758. J Inherit Metab Dis. 1995. PMID: 8750606

6

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

Baumgartner ER, Suormala T. Baumgartner ER, et al. Int J Vitam Nutr Res. 1997;67(5):377-84. Int J Vitam Nutr Res. 1997. PMID: 9350481 Review.

7

Delayed-onset profound biotinidase deficiency.

Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J. Wolf B, et al. J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0. J Pediatr. 1998. PMID: 9506660

8

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.

Möslinger D, Stöckler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Mühl A, Seidl R, Strobl W, Plecko B, Suormala T, Baumgartner ER. Möslinger D, et al. Eur J Pediatr. 2001 May;160(5):277-82. doi: 10.1007/s004310100740. Eur J Pediatr. 2001. PMID: 11388594

9

Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results.

Suormala T, Wick H, Baumgartner ER. Suormala T, et al. Eur J Pediatr. 1988 Jun;147(5):478-80. doi: 10.1007/BF00441970. Eur J Pediatr. 1988. PMID: 3409923

10

Biotinidase deficiency: factors responsible for the increased biotin requirement.

Baumgartner ER, Suormala T, Wick H, Bausch J, Bonjour JP. Baumgartner ER, et al. J Inherit Metab Dis. 1985;8 Suppl 1:59-64. doi: 10.1007/BF01800661. J Inherit Metab Dis. 1985. PMID: 3930842

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