Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Touma E, Suormala T, Baumgartner ER, Gerbaka B, Ogier de Baulny H, Loiselet J.

J Inherit Metab Dis. 1999 Apr;22(2):115-22.

PMID:
10234606
2.

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.

Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER.

Eur J Pediatr. 1998 Jul;157(7):570-5.

PMID:
9686819
3.

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Holme E, Kudoh J, Shimizu N, Narisawa K.

Eur J Pediatr. 2000 Jan-Feb;159(1-2):18-22.

PMID:
10653324
4.

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzm├╝ller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R.

Pediatr Res. 1997 May;41(5):666-73.

PMID:
9128289
5.

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.

Sherwood WG, Saunders M, Robinson BH, Brewster T, Gravel RA.

J Pediatr. 1982 Oct;101(4):546-50.

PMID:
6811711
6.

Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

Hwu WL, Suzuki Y, Yang X, Li X, Chou SP, Narisawa K, Tsai WY.

J Formos Med Assoc. 2000 Feb;99(2):174-7.

PMID:
10770035
7.

Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.

Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER.

Eur J Pediatr. 1993 May;152(5):446-9.

PMID:
8319716
8.

Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C.

Am J Hum Genet. 1984 Jan;36(1):80-92.

9.

Holocarboxylase synthetase deficiency: report of one case.

Chou IC, Wang CS, Lin WD, Lin HC, Tsai CH, Wang TR, Tsai FJ.

Acta Paediatr Taiwan. 2006 Nov-Dec;47(6):309-11.

PMID:
17407983
11.

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Suormala T, Baumgartner ER, Gibson KM, Narisawa K.

Pediatr Res. 1999 Dec;46(6):671-6.

PMID:
10590022
12.

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency.

Thuy LP, Belmont J, Nyhan WL.

Prenat Diagn. 1999 Feb;19(2):108-12.

PMID:
10215065
13.

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

Aoki Y, Suzuki Y, Li X, Sakamoto O, Chikaoka H, Takita S, Narisawa K.

Pediatr Res. 1997 Dec;42(6):849-54.

PMID:
9396568
14.
15.

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

Baumgartner ER, Suormala T.

Int J Vitam Nutr Res. 1997;67(5):377-84. Review.

PMID:
9350481
16.

[Multiple biotin-dependent carboxylase deficiencies (author's transl)].

Munnich A, Saudubray JM, Ogier H, Coude FX, Marsac C, Roccichioli F, Labarthe JC, Cazenave C, Laugier J, Charpentier C, Fr├ęzal J.

Arch Fr Pediatr. 1981 Feb;38(2):83-90. French.

PMID:
6112972
17.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U.

Mol Genet Metab. 2003 Jul;79(3):160-6.

PMID:
12855220
18.

Late-onset holocarboxylase synthetase deficiency.

Gibson KM, Bennett MJ, Nyhan WL, Mize CE.

J Inherit Metab Dis. 1996;19(6):739-42.

PMID:
8982946
19.

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL, Mak TW, Sung YM, Cheung KL, Fok TF.

Clin Biochem. 2003 Mar;36(2):145-9.

PMID:
12633764
20.

Supplemental Content

Support Center