funnel chest/phosphatase

Povezava se shrani v odložišče

ČlankiKliničnih preskušanjPatenti

Izberite vrsto razvrščanja

7 rezultatov

Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Hypophosphatasia is an inherited disorder due to mutations in the bone alkaline phosphatase (ALPL) gene. We report here a patient with childhood hypophosphatasia diagnosed at 1.4 yr because of pectus excavatum, large anterior fontanel, rachitic skeletal changes, and low serum alkaline phosphatase.

Study on the correlation between OSAS and thoracic deformity in children: A retrospective single-center study in China

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Objective: To evaluate the correlation between obstructive sleep apnea syndrome (OSAS) and the development of thoracic deformity in Children. Methods: A retrospective analysis

Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy).

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking

Hypophosphatasia in a newborn infant.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase. In this report, we presented a five-day-old male with this rare disorder. His parents were first cousins,

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies,

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low-set cupped ears with sensorineural hearing loss, normal phallus, pectus

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Samo registrirani uporabniki lahko prevajajo članke

Prijava / prijava

Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and

Pridružite se naši
facebook strani

Herbal & Natural Medicine

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

Deluje v 55 jezikih
Zeliščna zdravila, podprta z znanostjo
Prepoznavanje zelišč po sliki
Interaktivni GPS zemljevid - označite zelišča na lokaciji (kmalu)
Preberite znanstvene publikacije, povezane z vašim iskanjem
Iščite zdravilna zelišča po njihovih učinkih
Organizirajte svoje interese in bodite na tekočem z raziskavami novic, kliničnimi preskušanji in patenti

Vnesite simptom ali bolezen in preberite o zeliščih, ki bi lahko pomagala, vnesite zelišče in si oglejte bolezni in simptome, proti katerim se uporablja.
* Vse informacije temeljijo na objavljenih znanstvenih raziskavah