MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1002/ajmg.1320310617

Медицинская библиотека · American journal of medical genetics. Supplement · 1988

Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.

Goebel H H, Bilzer T, Dahme E, Malkusch F

СтатьяПеревод пока не подготовлен

Аннотация

Dalmatian dogs may develop a neuronal or generalized ceroid-lipofuscinosis (NCL) which strongly resembles that seen in English setters, especially as to the ultrastructural changes and ubiquity of the stored lipopigments and the retinal pathology, while differing clinically from the disorder of English setters in that the disease has a longer course of up to 5 or 6 yr. Clinical onset is at about age 6 months; however, an unequivocal morphological diagnosis is possible between the 4th and 5th month of life in biopsied skin. Detailed data of additional investigations are in progress and are awaiting later publication. Thus, NCL in the Dalmatian dog, though not yet as thoroughly investigated as NCL of the English setter, may provide another useful model for human NCL. Whether future biochemical studies will provide further similarities or even dissimilarities to NCL in English setters and in man remains to be seen. The cause of NCL in the canine and in humans is homozygosity of an autosomal recessive gene; however, the pathogenesis of the NCL in Dalmatian dogs is unknown as it is in English setters, other canine species, non-canine species, and in humans.

Для цитирования: Goebel H H, Bilzer T, Dahme E, Malkusch F. Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.. American journal of medical genetics. Supplement. 1988. DOI: 10.1002/ajmg.1320310617.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.