-
1
-
-
0028004454
-
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency
-
Bakker HD, Westra M, Overweg-Plandsoen WCG et al (1994) Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. Eur J Pediatr 153: 861-862.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 861-862
-
-
Bakker, H.D.1
Westra, M.2
Overweg-Plandsoen, W.C.G.3
-
2
-
-
0023636904
-
Spatial localization in NMR spectroscopy in vivo
-
Bottomley PA (1987) Spatial localization in NMR spectroscopy in vivo. Ann NY Acad Sci 508: 333-348.
-
(1987)
Ann NY Acad Sci
, vol.508
, pp. 333-348
-
-
Bottomley, P.A.1
-
3
-
-
0027292046
-
Reversal of brain atrophy with biotin treatment in biotinidase deficiency
-
Bousounis DP, Camfield PR, Wolf B (1993) Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics 24: 214-217.
-
(1993)
Neuropediatrics
, vol.24
, pp. 214-217
-
-
Bousounis, D.P.1
Camfield, P.R.2
Wolf, B.3
-
4
-
-
0022536656
-
Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin
-
Diamantopoulos N, Painter MJ, Wolf B, Heard GS, Roe C (1986) Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. Neurology 36: 1107-1109.
-
(1986)
Neurology
, vol.36
, pp. 1107-1109
-
-
Diamantopoulos, N.1
Painter, M.J.2
Wolf, B.3
Heard, G.S.4
Roe, C.5
-
5
-
-
0021592331
-
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency
-
Di Rocco M, Superti-Figura A, Durand P, et al (1984) Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. J Inher Metab Dis 7: 119-120.
-
(1984)
J Inher Metab Dis
, vol.7
, pp. 119-120
-
-
Di Rocco, M.1
Superti-Figura, A.2
Durand, P.3
-
6
-
-
0027168807
-
Cerebrospinal fluid organic acids in biotinidase deficiency
-
Duran M, Baumgartner ER, Suormala TM, et al (1993) Cerebrospinal fluid organic acids in biotinidase deficiency. J Inher Metab Dis. 16: 513-516.
-
(1993)
J Inher Metab Dis.
, vol.16
, pp. 513-516
-
-
Duran, M.1
Baumgartner, E.R.2
Suormala, T.M.3
-
7
-
-
78651119792
-
Reinigung und Eigenschaften der Biotinidase aus Schweinenieren und Lactobacillus casei
-
Knappe J, Brunner W, Bederbick KH (1963) Reinigung und Eigenschaften der Biotinidase aus Schweinenieren und Lactobacillus casei. Biochem Z 338: 599-613.
-
(1963)
Biochem Z
, vol.338
, pp. 599-613
-
-
Knappe, J.1
Brunner, W.2
Bederbick, K.H.3
-
8
-
-
0028869441
-
Metabolic alterations in the neonate and infant brain during development: Evaluation with proton MR spectroscopy
-
Kimura H, Fujii Y, Itoh S, et al (1995) Metabolic alterations in the neonate and infant brain during development: evaluation with proton MR spectroscopy. Radiology 194: 483-489.
-
(1995)
Radiology
, vol.194
, pp. 483-489
-
-
Kimura, H.1
Fujii, Y.2
Itoh, S.3
-
9
-
-
0024449611
-
Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature
-
Michalski AJ, Berry GT, Segal S (1989) Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. J Inher Metab Dis 12: 312-316.
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 312-316
-
-
Michalski, A.J.1
Berry, G.T.2
Segal, S.3
-
10
-
-
0025218983
-
Biotinidase in the porcine cerebrum
-
Oizumi J, Hayakawa K (1990) Biotinidase in the porcine cerebrum. Arch Biochem Biophys 278: 381-385.
-
(1990)
Arch Biochem Biophys
, vol.278
, pp. 381-385
-
-
Oizumi, J.1
Hayakawa, K.2
-
11
-
-
0014085860
-
Independence of blood and cerebrospinal fluid lactate
-
Posner JB, Plum F (1967) Independence of blood and cerebrospinal fluid lactate. Arch Neurol 16: 492.
-
(1967)
Arch Neurol
, vol.16
, pp. 492
-
-
Posner, J.B.1
Plum, F.2
-
12
-
-
0028695478
-
Clinical applications of magnetic resonance spectroscopy
-
Ross B, Michaelis T (1994) Clinical applications of magnetic resonance spectroscopy. Magn Reson Q 10: 191-247.
-
(1994)
Magn Reson Q
, vol.10
, pp. 191-247
-
-
Ross, B.1
Michaelis, T.2
-
13
-
-
0025853514
-
Rat as a potential model for hearing loss in biotinidase deficiency
-
Rybak LP, Whitworth C, Scott V, Weberg AK, Bhardwaj B (1991) Rat as a potential model for hearing loss in biotinidase deficiency. Ann Otol Rhinol Laryngol 100: 294-299.
-
(1991)
Ann Otol Rhinol Laryngol
, vol.100
, pp. 294-299
-
-
Rybak, L.P.1
Whitworth, C.2
Scott, V.3
Weberg, A.K.4
Bhardwaj, B.5
-
14
-
-
0025276001
-
Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies
-
Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S (1990) Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. J Inher Metab Dis 13: 76-92.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 76-92
-
-
Suormala, T.M.1
Baumgartner, E.R.2
Wick, H.3
Scheibenreiter, S.4
Schweitzer, S.5
-
15
-
-
0025285599
-
Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain
-
van der Knaap MS, van der Grond J, van Rijen PC, Faber JAJ, Valk J, Willemse K (1990) Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology 176: 509-515.
-
(1990)
Radiology
, vol.176
, pp. 509-515
-
-
Van Der Knaap, M.S.1
Van Der Grond, J.2
Van Rijen, P.C.3
Faber, J.A.J.4
Valk, J.5
Willemse, K.6
-
16
-
-
0021843284
-
Biotinidase deficiency: Pre-symptomatic treatment
-
Wallace SJ (1986) Biotinidase deficiency: pre-symptomatic treatment. Arch Dis Child 60: 574-579.
-
(1986)
Arch Dis Child
, vol.60
, pp. 574-579
-
-
Wallace, S.J.1
-
17
-
-
0003114965
-
Disorders of biotin metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Wolf B (1995) Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 3151-3177.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 3151-3177
-
-
Wolf, B.1
|