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This lower-than-normal B12 profile persisted throughout life in the brain tissues of patients with autism. These deficiencies are not visible by conventional blood sampling. [104] [105] As for the classic deficiency of vitamin B12, it would affect up to 40% of the population, its prevalence has not yet been studied in autism spectrum disorders ...
Acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome [1] and Lawrence–Seip syndrome, [1] is a rare skin condition that appears during childhood or adolescence, characterized by fat loss affecting large areas of the body, particularly the face, arms, and legs.
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. [ 1 ] [ 2 ] The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue .
This lower-than-normal B12 profile persisted throughout life in the brain tissues of patients with autism. These deficiencies are not visible by conventional blood sampling. As for the classic deficiency of vitamin B12, it would affect up to 40% of the population, its prevalence has not yet been studied in autism spectrum disorders. Vitamin B12 ...
14705 Ensembl ENSG00000168000 ENSMUSG00000071657 UniProt Q96G97 Q9Z2E9 RefSeq (mRNA) NM_001122955 NM_001130702 NM_032667 NM_001386027 NM_001386028 NM_001136064 NM_001290823 NM_008144 RefSeq (protein) NP_001116427 NP_001124174 NP_116056 NP_001129536 NP_001277752 NP_032170 Location (UCSC) Chr 11: 62.69 – 62.71 Mb Chr 19: 8.81 – 8.83 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse ...
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with neonatal progeroid syndrome (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of white adipose tissue are ...
Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [2] It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. [3]
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesions, and recurrent long-term fever symptoms. [1]