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Topic Review
GNE Gene
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • 867
  • 23 Dec 2020
Topic Review
CBFB Gene
core-binding factor subunit beta
  • 867
  • 24 Dec 2020
Topic Review
Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
  • 867
  • 25 Dec 2020
Topic Review
Influence of Prenatal Methamphetamine Abuse on the Brain
Methamphetamine (MA), a psychostimulant, has become a serious problem in recent years. It is one of the most widely abused psychostimulants in the world.
  • 867
  • 29 Oct 2021
Topic Review
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
  • 866
  • 23 Dec 2020
Topic Review
SUCLA2 Gene
Succinate-CoA ligase ADP-forming beta subunit: The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase.
  • 866
  • 24 Dec 2020
Topic Review
Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 866
  • 24 Dec 2020
Topic Review
NNT Gene
nicotinamide nucleotide transhydrogenase
  • 866
  • 24 Dec 2020
Topic Review
CAV3 Gene
caveolin 3
  • 866
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 866
  • 24 Dec 2020
Topic Review
PIK3CD Gene
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • 866
  • 25 Dec 2020
Topic Review
CYP27B1 Gene
Cytochrome P450 Family 27 Subfamily B Member 1: The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). 
  • 865
  • 23 Dec 2020
Topic Review
CLN11 Disease
CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.
  • 865
  • 24 Dec 2020
Topic Review
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.
  • 865
  • 25 Dec 2020
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 864
  • 23 Dec 2020
Topic Review
X-linked Creatine Deficiency
X-linked creatine deficiency is an inherited disorder that primarily affects the brain.
  • 864
  • 24 Dec 2020
Topic Review
COL1A2 Gene
collagen type I alpha 2 chain
  • 864
  • 24 Dec 2020
Topic Review
ABCB4 Gene
ATP binding cassette subfamily B member 4
  • 864
  • 24 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 864
  • 24 Dec 2020
Topic Review
F11 Gene
Coagulation factor XI
  • 864
  • 24 Dec 2020
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