Results 161 to 170 of about 18,288 (188)
Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]
Front Endocrinol (Lausanne)Tagi VM +10 more
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Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort. [PDF]
Neuropsychiatr Dis TreatZhang Y +7 more
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Gene Therapy-Related Malignancy and the Risk of Cancer Exceptionalism. [PDF]
J Clin OncolBenedetti DJ, Marron JM, Kodish E.
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Editorial: Advances in systems neurogenetics. [PDF]
Front NeurosciCarney P, Zhang B.
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Current Opinion in Neurology, 1995
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world.
M, Rosenkilde +2 more
openaire +4 more sources
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world.
M, Rosenkilde +2 more
openaire +4 more sources
Archives of Neurology, 1975
Ultrastructural and neurochemical studies were done on three male patients with adrenoleukodystrophy. In each case, the affected white matter contained enlarged glial cells filled with pathognomic intracytoplasmic inclusions consisting of electron-lucent spicules bounded by 25-Angstrom wide membranes.
H, Powell +5 more
openaire +3 more sources
Ultrastructural and neurochemical studies were done on three male patients with adrenoleukodystrophy. In each case, the affected white matter contained enlarged glial cells filled with pathognomic intracytoplasmic inclusions consisting of electron-lucent spicules bounded by 25-Angstrom wide membranes.
H, Powell +5 more
openaire +3 more sources
Endocrinology and Metabolism Clinics of North America, 1991
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women.
H W, Moser +3 more
openaire +2 more sources
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women.
H W, Moser +3 more
openaire +2 more sources