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Topic Review
Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 795
  • 23 Dec 2020
Topic Review
Vitelliform Macular Dystrophy
Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.
  • 795
  • 23 Dec 2020
Topic Review
Alexander Disease
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.
  • 795
  • 24 Dec 2020
Topic Review
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
  • 795
  • 24 Dec 2020
Topic Review
COL6A2 Gene
collagen type VI alpha 2 chain
  • 795
  • 24 Dec 2020
Topic Review
MMADHC Gene
metabolism of cobalamin associated D
  • 795
  • 22 Dec 2020
Topic Review
PDHX Gene
pyruvate dehydrogenase complex component X
  • 795
  • 25 Dec 2020
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 794
  • 23 Dec 2020
Topic Review
SERPINC1 Gene
serpin family C member 1
  • 794
  • 24 Dec 2020
Topic Review
Genomics Biomarkers for Type 2 Diabetes
Type 2 diabetes (T2D) is a deficiency in how the body regulates glucose. Uncontrolled T2D will result in chronic high blood sugar levels, eventually resulting in T2D complications. These complications, such as kidney, eye, and nerve damage, are even harder to treat.
  • 794
  • 29 Mar 2022
Topic Review
Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.  
  • 793
  • 23 Dec 2020
Topic Review
Caudal Regression Syndrome
Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
  • 793
  • 24 Dec 2020
Topic Review
TFR2 Gene
Transferrin receptor 2: The TFR2 gene provides instructions for making a protein called transferrin receptor 2. 
  • 793
  • 25 Dec 2020
Topic Review
FZD2 Gene
Frizzled class receptor 2
  • 793
  • 25 Dec 2020
Topic Review
RASA1 Gene
RAS p21 protein activator 1
  • 793
  • 23 Dec 2020
Topic Review
PROK2 Gene
prokineticin 2
  • 792
  • 22 Dec 2020
Topic Review
GM1 Gangliosidosis
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 792
  • 23 Dec 2020
Topic Review
MT-ND1 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
  • 792
  • 23 Dec 2020
Topic Review
CLRN1 Gene
clarin 1
  • 792
  • 24 Dec 2020
Topic Review
Klippel-Feil Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae).
  • 791
  • 23 Dec 2020
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