-
2
-
-
0003720085
-
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Ed.
-
-
-
3
-
-
0343638182
-
Vitamin-dependent genetic disease
-
McKusick VA, Claiborne R, eds. New York: HP Publishing
-
Rosenberg LE. Vitamin-dependent genetic disease. In: McKusick VA, Claiborne R, eds. Medical genetics. New York: HP Publishing, 1973:73
-
(1973)
Medical Genetics
, pp. 73
-
-
Rosenberg, L.E.1
-
4
-
-
33645463359
-
-
Fernandes J, Saudubray JM, Van den Berghe GV, eds. Berlin: Springer-Verlag
-
Rosenblatt DS, Shevell MI. Inherited disorders of cobalamin and folate absorption and metabolism, 2nd ed. Fernandes J, Saudubray JM, Van den Berghe GV, eds. Berlin: Springer-Verlag, 1995:247
-
(1995)
Inherited Disorders of Cobalamin and Folate Absorption and Metabolism, 2nd Ed.
, pp. 247
-
-
Rosenblatt, D.S.1
Shevell, M.I.2
-
5
-
-
0003114965
-
Disorders of biotin metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995:3151
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Ed.
, pp. 3151
-
-
Wolf, B.1
-
6
-
-
0021879678
-
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency
-
Burry BJ, Sweetman L, NyWhan W. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet 1985;37:326
-
(1985)
Am J Hum Genet
, vol.37
, pp. 326
-
-
Burry, B.J.1
Sweetman, L.2
NyWhan, W.3
-
7
-
-
0021108250
-
Deficient biotinidase activity in late-onset multiple carboxylase deficiency
-
Wolf B, Grier RE, Parker WD, Goodman SI, Allen RJ. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med 1983;308:161
-
(1983)
N Engl J Med
, vol.308
, pp. 161
-
-
Wolf, B.1
Grier, R.E.2
Parker, W.D.3
Goodman, S.I.4
Allen, R.J.5
-
8
-
-
0022262194
-
Biotinidase deficiency: A novel vitamin recycling defect
-
Wolf B, Grier RW, Secor McVoy JR, Heard GS. Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 1985; 8(suppl 1):53
-
(1985)
J Inherit Metab Dis
, vol.8
, Issue.1 SUPPL.
, pp. 53
-
-
Wolf, B.1
Grier, R.W.2
Secor McVoy, J.R.3
Heard, G.S.4
-
9
-
-
0019503065
-
Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin
-
Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics 1981;68:553
-
(1981)
Pediatrics
, vol.68
, pp. 553
-
-
Sweetman, L.1
Surh, L.2
Baker, H.3
Peterson, R.M.4
Nyhan, W.L.5
-
10
-
-
0021916384
-
Biotin deficiency complicating parenteral alimentation
-
Mock DM, Baswell DL, Baker H, Holman RT, Sweetman L. Biotin deficiency complicating parenteral alimentation. J Pediatr 1988:106:762
-
(1988)
J Pediatr
, vol.106
, pp. 762
-
-
Mock, D.M.1
Baswell, D.L.2
Baker, H.3
Holman, R.T.4
Sweetman, L.5
-
11
-
-
0025277328
-
Indicators of biotin status: A study of patients on prolonged total parenteral nutrition
-
Velázquez A, Zamudio S, Baez A, Murguia-Corral R, Rangel Peniche B, Carrasco A. Indicators of biotin status: a study of patients on prolonged total parenteral nutrition. Eur J Clin Nutr 1990;43:11
-
(1990)
Eur J Clin Nutr
, vol.43
, pp. 11
-
-
Velázquez, A.1
Zamudio, S.2
Baez, A.3
Murguia-Corral, R.4
Rangel Peniche, B.5
Carrasco, A.6
-
12
-
-
0028833785
-
Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition
-
Velázquez A, Tercin M, Baez A, Gutierrez J, Rodriguez R. Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition. Am J Clin Nutr 1995;61:385
-
(1995)
Am J Clin Nutr
, vol.61
, pp. 385
-
-
Velázquez, A.1
Tercin, M.2
Baez, A.3
Gutierrez, J.4
Rodriguez, R.5
-
13
-
-
0020472677
-
Organic aciduria in neonatal multiple carboxylase deficiency
-
Sweetman L, Nyhan WL, Sakaati NA, et al. Organic aciduria in neonatal multiple carboxylase deficiency. J Inherit Metab Dis 1982;5:49
-
(1982)
J Inherit Metab Dis
, vol.5
, pp. 49
-
-
Sweetman, L.1
Nyhan, W.L.2
Sakaati, N.A.3
-
14
-
-
0028829342
-
On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias
-
Wendel U, Eibler A, Sperl W, Schadewaldt P. On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias. J Inherit Metab Dis 1995;18:584
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 584
-
-
Wendel, U.1
Eibler, A.2
Sperl, W.3
Schadewaldt, P.4
-
15
-
-
0029869895
-
Organic acid profiles resembling a β-oxidation defect in two patients with coeliac disease
-
Costa CG, Verhoeven NM, Kneepkens CMF, et al. Organic acid profiles resembling a β-oxidation defect in two patients with coeliac disease. J Inner Metab Dis 1996;19:177
-
(1996)
J Inner Metab Dis
, vol.19
, pp. 177
-
-
Costa, C.G.1
Verhoeven, N.M.2
Kneepkens, C.M.F.3
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