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Achromatopsia is a hereditary disease characterized by the loss of cone photoreceptor function that results in day-blindness
aw/at or aw/a alleles
Generalisierte progressive Retinaatrophien (gPRA) sind eine Gruppe von vererbten Netzhautdystrophien
Es handelt sich um eine schwere Störung des Glykogenstoffwechsels und ist gekennzeichnet durch Glykogenansammlung
Der Test kann in jedem Alter durchgeführt werden
Episodic Falling Syndrom (EFS) DogCheck Achromatopsia is a hereditary diseaseEpisodic falling syndrome (EFS) in Cavalier King Charles spaniels is a canine paroxysmal hypertonicity disorder. Episodes begin between fourteen weeks and four years of age and are triggered by exercise, stress, apprehension or excitement. Episodes are characterized by progressive hypertonicity throughout the thoracic and pelvic limbs, which can lead to immobilization and collapse. Other clinical signs may include facial muscle stiffness, stumbling, a
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