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Your search keyword '"Poll‐The, B. T."' showing total 3 results
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3 results on '"Poll‐The, B. T."'

1. [Clinical aspects of hereditary peroxisomal disorders].

Author

Billette de Villemeur T, Poll The BT, and Saudubray JM

Subjects
Humans, Infant, Newborn, Metabolism, Inborn Errors complications, Metabolism, Inborn Errors enzymology, Metabolism, Inborn Errors genetics, Microbodies ultrastructure, Nervous System Diseases diagnosis, Nervous System Diseases enzymology, Nervous System Diseases etiology, Nervous System Diseases genetics, Metabolism, Inborn Errors diagnosis, Microbodies enzymology
Published
1991

2. [Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings].

Author

Sarda H, Henry V, Le Loc'h H, Aubourg P, Poll-The BT, and Saudubray JM

Subjects
Adrenoleukodystrophy genetics, Female, Humans, Infant, Newborn, Male, Adrenoleukodystrophy congenital, Diffuse Cerebral Sclerosis of Schilder congenital
Abstract

Neonatal adrenoleukodystrophy is a recently individualized disease manifested by very early onset of neurologic deterioration. Progression of the disease is rapid and there is no effective therapy. Differences with X-linked adrenoleukodystrophy include genetic inheritance, which is autosomal recessive, a more severe prognosis, and presence of multiple peroxisome enzyme deficiencies that justify classification alongside the Zellweger syndrome among the peroxisome disorders. We report three cases in siblings and describe the main clinical and biochemical features.

Published
1989

3. [Biochemistry of peroxisome and peroxisomal diseases].

Author

Vamecq J, Poll-The BT, and Saudubray JM

Subjects
Carnitine O-Acetyltransferase metabolism, Coenzyme A metabolism, Fatty Acids metabolism, Glyoxylates metabolism, Hyperoxaluria, Primary surgery, Liver Diseases enzymology, Liver Diseases pathology, Microbodies enzymology, Microbodies physiology, Organelle Biogenesis, Phospholipid Ethers metabolism, Phytanic Acid metabolism, Pipecolic Acids metabolism, Plasmalogens deficiency, Microbodies metabolism
Published
1988

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