polyneuropathies/proline

Холбоосыг санах ойд хадгалдаг

Эрэмбэлэх төрлийг сонгоно уу

9 үр дүн

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Familial amyloidotic polyneuropathy (FAP) is associated with the deposition of an abnormal transthyretin (TTR) molecule. We have studied DNA from a family of Greek descent with FAP. The proband's TTR gene was asymmetrically amplified by using PCR and then was sequenced directly, to reveal a

Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

We report a family with familial amyloid polyneuropathy (FAP), showing an early-onset and a fatal outcome before age 30. Transthyretin (TTR) gene analysis showed one point mutation (T-->C change) in the second base of codon 55, and the corresponding amino acid substitution of proline (Pro) for

Efficacy and safety of Privigen(®) in patients with chronic inflammatory demyelinating polyneuropathy: results of a prospective, single-arm, open-label Phase III study (the PRIMA study).

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

This prospective, multicenter, single-arm, open-label Phase III study aimed to evaluate the efficacy and safety of Privigen(®) (10% liquid human intravenous immunoglobulin [IVIG], stabilized with L-proline) in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Patients received

Subcutaneous Immunoglobulin Therapy for Chronic Inflammatory Demyelinating Polyneuropathy: A Nursing Perspective.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Chronic inflammatory demyelinating polyneuropathy (CIDP), an immune-mediated peripheral neuropathy, is frequently treated with long-term maintenance intravenous immunoglobulin (IVIG). However, disadvantages of IVIG are the systemic adverse reactions, lengthy infusions, and need for vascular access.

IgPro20, the Polyneuropathy and Treatment with Hizentra® study (PATH), and the treatment of chronic inflammatory demyelinating polyradiculoneuropathy with subcutaneous IgG.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Subcutaneous IgG (SCIG) administration may be preferred over the intravenous route (IVIG) in chronic inflammatory demyelinating polyneuropathy (CIDP) because it minimizes 'end of cycle' treatment-related fluctuations, reduces systemic adverse effects, improves convenience/quality of life and

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new

The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

The x-ray crystal structure of the amyloidogenic Leu55 --> Pro transthyretin (TTR) variant, implicated as the causative agent in early-onset familial amyloidotic polyneuropathy (Jacobson, D. R., McFarlin, D. E., Kane, I., and Buxbaum, J. N. (1992) Hum. Genet. 89, 353-356), has been solved by

Rare myelin protein zero sequence variant in late onset CMT1B.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Myelin protein zero (MPZ) mutations cause demyelinating neuropathies that range from severe neonatal to milder adult forms. We report a 65-year-old woman with slowly progressive leg weakness starting at 47. Examination revealed distal weakness and atrophy in all extremities, impaired light touch in

Amino acid synthesis deficiencies.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In

Манай facebook
хуудсанд нэгдээрэй

Herbal & Natural Medicine

Шинжлэх ухаанаар баталгаажсан эмийн өвс ургамлын бүрэн мэдээллийн сан

55 хэл дээр ажилладаг
Шинжлэх ухааны үндэслэсэн ургамлын гаралтай эдгэрэлт
Ургамлыг дүрсээр таних
Интерактив GPS газрын зураг - эмийн ургамлыг байршлаар нь тэмдэглэнэ (удахгүй)
Хайлттай холбоотой шинжлэх ухааны нийтлэлүүдийг уншина уу
Эмийн өвсийг үр нөлөөгөөр нь хайж олох
Мэдээллийн судалгаа, клиник туршилт, патентыг цаг тухайд нь сонирхож, зохион байгуул

Шинж тэмдэг эсвэл өвчний талаар бичиж, тус болох ургамлын талаар уншиж, өвслөг ургамлыг бичиж, өвчний эсрэг шинж тэмдгийг үзээрэй.
* Бүх мэдээлэл нь хэвлэгдсэн эрдэм шинжилгээний судалгаанд үндэслэсэн болно