Giant Cell Hepatitis
It is the liver disease of infancy. It is commonest causes of
cholestasis in...
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Giant Cell Disease of the Liver
It is the
liver injury in new borns inwhom the infectious and metabolic disease have been excluded. It is also called as idiopathic
neonatal hepatitis...
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Ataxia Friedreich
Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait...
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Gianotti Crosti Syndrome
It is also known as papular
acrodermatitis of childhood.It occurs in reponse to virla infection in which there will be formation of
papular rash...
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Nager syndrome 1
Nager Syndrome is a condition which is extremely rare congenital defect with heriditary features which has only 25% of survival rates resulting...
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Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment,
cerebellar ataxia...
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Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky...
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Zinsser Cole Engman Syndrome
Zinsser Cole Engman Syndrome is also known as Cole's syndrome, Cole Rauschkolb Toomey syndrome, Hoyeraal Hreidarsson Syndrome, Zinsser's syndrome,...
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Acid Beta glucosidase Deficiency
Acid- beta glucosidase deficiency is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme...
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Gilford Syndrome
It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-
Charcot syndrome (a variant of...
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1480 Views