piebaldism/seizures

Kiungo kimehifadhiwa kwenye clipboard

NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

5 matokeo

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

BACKGROUND Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of

Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated

Griscelli's syndrome: clinical features of three siblings.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine months

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic

Jiunge na ukurasa
wetu wa facebook

Herbal & Natural Medicine

Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi

Inafanya kazi katika lugha 55
Uponyaji wa mitishamba unaungwa mkono na sayansi
Kutambua mimea kwa picha
Ramani ya GPS inayoshirikiana
Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

Andika dalili au ugonjwa na usome juu ya mimea ambayo inaweza kusaidia, chapa mimea na uone magonjwa na dalili ambazo hutumiwa dhidi yake.
* Habari zote zinategemea utafiti wa kisayansi uliochapishwa