megalencephaly/arginine

Lyen an sove nan clipboard la

AtikEsè klinikPatant

Chwazi kalite sòt

12 rezilta yo

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

BACKGROUND Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly,

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Cowden disease (CD), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with high risk of breast and thyroid cancer. Recently, germline mutations in PTEN / MMAC1, which has nine exons encoding a dual specificity phosphatase with homology to tensin and

Acromegaly in an infant.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Serial hormonal studies were carried out in a girl with a growth hormone-secreting pituitary adenoma and hyperprolactinemia diagnosed at 21 months of age, the youngest verified case of acromegaly. The child had progressive macrocephaly, noted at 6 months of age, which preceded the rapid acceleration

Inherited Disorders of Lysine Metabolism: A Review

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Lysine is an essential amino acid, and inherited diseases of its metabolism therefore represent defects of lysine catabolism. Although some of these enzyme defects are not well described yet, glutaric aciduria type I (GA1) and antiquitin (2-aminoadipic-6-semialdehyde dehydrogenase) deficiency

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Achondroplasia is a common form of human dwarfism with characteristically rhizomelic shortening of extremities and relative macrocephaly. It is transmitted as an autosomally dominant inheritance, and about 80% of affected individuals result from sporadic mutations without positive family histories.

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Achondroplasia, the most common cause of chondrodysplasia in man, is characterized by short-limbed dwarfism, macrocephaly, and dysplasia of metaphyses of the tubular bones. Recently, mutations in the gene encoding fibroblast growth factor receptor-3 (FGFR-3) have been found in patients with

Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Acromegaly is usually not a difficult condition to diagnose once the possibility of this disease has been raised. However, a few conditions present with some aspects of acromegaly or gigantism but without growth hormone (GH) excess. Such cases are described as "pseudoacromegaly" or

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

BACKGROUND Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (DNMT3A), referred to as Tatton-Brown-Rahman syndrome (TBRS). Somatically acquired

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. More than 90% of cases are sporadic and there is an increased paternal age at the time of conception of affected

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial

Antre nan paj
facebook nou an

Herbal & Natural Medicine

Baz done ki pi konplè remèd fèy medsin te apiye nan syans

Travay nan 55 lang
Geri èrbal te apiye nan syans
Remèd fèy rekonesans pa imaj
Kat entèaktif GPS - tag zèb sou kote (vini byento)
Li piblikasyon syantifik ki gen rapò ak rechèch ou an
Search remèd fèy medsin pa efè yo
Izeganize enterè ou yo ak rete kanpe fè dat ak rechèch la nouvèl, esè klinik ak rive

Tape yon sentòm oswa yon maladi epi li sou remèd fèy ki ta ka ede, tape yon zèb ak wè maladi ak sentòm li itilize kont.
* Tout enfòmasyon baze sou rechèch syantifik pibliye