-
2
-
-
0031963520
-
Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis
-
Powers J.M., Moser H.W. Peroxisomal disorders Genotype, phenotype, major neuropathologic lesions, and pathogenesis . Brain Pathol. 8:1998;101-120.
-
(1998)
Brain Pathol
, vol.8
, pp. 101-120
-
-
Powers, J.M.1
Moser, H.W.2
-
3
-
-
84935546207
-
Disorders of very long chain fatty acids
-
R. Behrman, R. Kliegman, W. Nelson, & V. III Vaughan. Philadelphia: WB Saunders
-
Moser H. Disorders of very long chain fatty acids. Behrman R., Kliegman R., Nelson W., Vaughan V. III. Nelson textbook of pediatrics. 14th ed. 1992;338-344 WB Saunders, Philadelphia.
-
(1992)
Nelson Textbook of Pediatrics 14th Ed.
, pp. 338-344
-
-
Moser, H.1
-
4
-
-
0000228425
-
Disorders of peroxisome biogenesis
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
-
Lazarow P., Moser H. Disorders of peroxisome biogenesis. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited diseases. 7th ed. 1995;2287-2324 McGraw-Hill, New York.
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases 7th Ed.
, pp. 2287-2324
-
-
Lazarow, P.1
Moser, H.2
-
5
-
-
0019780183
-
Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings
-
Burton B., Reed S., Remy W. Hyperpipecolic acidemia Clinical and biochemical observations in two male siblings . J Pediatr. 99:1981;729-734.
-
(1981)
J Pediatr
, vol.99
, pp. 729-734
-
-
Burton, B.1
Reed, S.2
Remy, W.3
-
6
-
-
0016590970
-
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease
-
Thomas G., Haslam R., Batshaw M., Capute A., Neidengard L., Ransom J. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. Clin Genet. 8:1975;376-382.
-
(1975)
Clin Genet
, vol.8
, pp. 376-382
-
-
Thomas, G.1
Haslam, R.2
Batshaw, M.3
Capute, A.4
Neidengard, L.5
Ransom, J.6
-
7
-
-
0014433575
-
Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly
-
Gatfield P., Taller E., Hinton G., Wallace A., Abdelnour G., Haust M. Hyperpipecolatemia A new metabolic disorder associated with neuropathy and hepatomegaly . Can Med Assoc J. 99:1968;1215-1233.
-
(1968)
Can Med Assoc J
, vol.99
, pp. 1215-1233
-
-
Gatfield, P.1
Taller, E.2
Hinton, G.3
Wallace, A.4
Abdelnour, G.5
Haust, M.6
-
8
-
-
0027158609
-
Human liver pathology in peroxisomal disorders: A review including novel data
-
Roels F., Espeel M., Poggi F., Mandel H., van Maldergem L., Saudubray J.M. Human liver pathology in peroxisomal disorders A review including novel data . Biochimie. 75:1993;281-292.
-
(1993)
Biochimie
, vol.75
, pp. 281-292
-
-
Roels, F.1
Espeel, M.2
Poggi, F.3
Mandel, H.4
Van Maldergem, L.5
Saudubray, J.M.6
-
10
-
-
0022292241
-
Absence of hepatic peroxisomes in a case of infantile Refsum's disease
-
Ogier H., Roels F., Cornelis A., Poll-The B.T., Scotto J.M., Odievre M., Saudubray J.M. Absence of hepatic peroxisomes in a case of infantile Refsum's disease. Scand J Clin Lab Invest. 45:1985;767-768.
-
(1985)
Scand J Clin Lab Invest
, vol.45
, pp. 767-768
-
-
Ogier, H.1
Roels, F.2
Cornelis, A.3
Poll-The, B.T.4
Scotto, J.M.5
Odievre, M.6
Saudubray, J.M.7
-
11
-
-
0022610977
-
Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
-
Poll-The B., Saudubray J.M., Ogier H., et al. Infantile Refsum's disease Biochemical findings suggesting multiple peroxisomal dysfunction . J Inherit Metab Dis. 9:1986;169-174.
-
(1986)
J Inherit Metab Dis
, vol.9
, pp. 169-174
-
-
Poll-The, B.1
Saudubray, J.M.2
Ogier, H.3
-
12
-
-
0022474477
-
Hepatic peroxisomes are deficient in infantile Refsum's disease: A cytochemical study in 4 cases
-
Roels F., Cornelis A., Poll-The B.T., et al. Hepatic peroxisomes are deficient in infantile Refsum's disease A cytochemical study in 4 cases . Am J Med Genet. 25:1986;257-271.
-
(1986)
Am J Med Genet
, vol.25
, pp. 257-271
-
-
Roels, F.1
Cornelis, A.2
Poll-The, B.T.3
-
13
-
-
0023582841
-
Infantile Refsum's disease: An inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy
-
Poll-The B.T., Saudubray J.M., Ogier H., et al. Infantile Refsum's disease An inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy . Eur J Pediatr. 146:1987;477-483.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 477-483
-
-
Poll-The, B.T.1
Saudubray, J.M.2
Ogier, H.3
-
14
-
-
0021020487
-
Pathologic alterations in the brain and liver in hyperpipecolic acidemia
-
Challa V., Geisinger K., Burton B. Pathologic alterations in the brain and liver in hyperpipecolic acidemia. J Neuropathol Exp Neurol. 42:1983;627-638.
-
(1983)
J Neuropathol Exp Neurol
, vol.42
, pp. 627-638
-
-
Challa, V.1
Geisinger, K.2
Burton, B.3
|