Bung Hatta statue ,Bukittinggi

About me.....

My photo

Curiculum vitaeRumah Sakit Ketergantungan Obat ,Fatmawati - Cilandak,Jakarta.-, Puskesmas Lautem -Moro/ Los Palos, Puskesmas Viqueque ( Timor Timur / Timor Leste ) . Rumah Sakit Umum Pusat Bukittinggi .Program Pendidikan Dokter Spesialis di Rumah Sakit Dr.M.Jamil,Padang. Rumah Sakit Umum Suliki,Payakumbuh.Rumah Sakit Dr.Ahmad Muchtar,Bukittinggi.Rumah Sakit Tentara ,Bukittinggi

IKATAN DOKTER INDONESIA (IDI).Sumatera Barat

IKATAN DOKTER INDONESIA (IDI).Sumatera Barat
INDONESIAN MEDICAL ASSOCIATION

ASSALAMUALAIKUM........

dr Firman Abdullah SpOG / OBGYN

dr Firman Abdullah SpOG / OBGYN

Peer - Review..Cyberounds

Blog Archive

FEEDJIT Live Traffic Feed

Discussion Board


ShoutMix chat widget

USG 3D/4D images (dr Firman Abdullah SpOG/ObGyn picture's )

FEEDJIT Live Traffic Map

FEEDJIT Recommended Reading

FEEDJIT Live Page Popularity

dr Firman Abdullah SpOG / OBGYN

dr Firman Abdullah SpOG / OBGYN

Wednesday, April 22, 2009

CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions

NCBI PubMed A service of the U.S. National Library of Medicine
and the National Institutes of Health My NCBI



1: J Child Neurol. 2009 Jan;24(1):13-8.Related Articles, Links
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.

Jamroz E, Adamek D, Paprocka J, Adamowicz M, MarszaƂ E, Wevers RA.

Child Neurology Department, Medical University of Silesia, Katowice, Poland.

Congenital disorders of glycosylation are a heterogeneous group of disorders with multisystemic involvement. The most common form is phosphomannomutase deficiency or congenital disorders of glycosylation type Ia with an autosomal recessive inheritance and incidence estimated at 1/20000-1/50000 live born. Congenital disorders of glycosylation Ia can manifest as severe multisystemic disease of infancy or milder disorder with only neurological problems including ataxia, hypotonia, and psychomotor retardation. The brain pathological findings in congenital disorders of glycosylation type Ia patients corroborate with cerebellar dysfunction. Usually the most affected part is the anterior lobe of the vermis. Microscopic analysis demonstrates the prominent Purkinje cell loss and subtotal loss of the external and internal granule cell layers. The authors present clinical and pathological picture of a 4-month-old girl with congenital disorders of glycosylation type Ia, additionally complicated by congenital cytomegalovirus infection. The diagnosis was confirmed by low phosphomannomutase activity in patient's fibroblasts and mutations on both alleles of phosphomannomutase 2 gene.

Publication Types:
Research Support, Non-U.S. Gov't

PMID: 19168813 [PubMed - in process]

NCBI | NLM | NIH
Department of Health & Human Services
Privacy Statement | Freedom of Information Act | Disclaimer

No comments:

ACHMAD MOCHTAR GENERAL HOSPITAL BUKITTINGGI

ACHMAD MOCHTAR GENERAL HOSPITAL BUKITTINGGI
RUMAH SAKIT ACHMAD MOCHTAR BUKITTINGGI

Firman Abdullah Bung

drFirman Abdullah SpOG / ObGyn

drFirman Abdullah SpOG / ObGyn

KELUARGA BESAR TNI-AD

Dr Firman Abdullah SpOG/ OBGYN, Bukittinggi, Sumatera Barat ,Indonesia

Dr Firman Abdullah SpOG/ OBGYN,                              Bukittinggi, Sumatera Barat ,Indonesia

Bukittinggi , Sumatera Barat , Indonesia

Bukittinggi , Sumatera Barat  , Indonesia
Balaikota Bukittinggi

dr Firman Abdullah SpOG / OBGYN

dr Firman Abdullah SpOG / OBGYN

Ngarai Sianok ,Bukittinggi, Sumatera Barat.Indonesia

Ngarai Sianok ,Bukittinggi, Sumatera Barat.Indonesia

Brevet in Specialist Obstetric's & Gynecologist 1998

Brevet in Specialist Obstetric's & Gynecologist 1998
dr Firman Abdullah SpOG/ObGyn

Dokter Spesialis Kebidanan dan Penyakit Kandungan . ( Obstetric's and Gynaecologist ) . Jl.Bahder Johan no.227,Depan pasar pagi ,Tembok .Bukittinggi 26124 ,HP:0812 660 1614. West Sumatra,Indonesia

Sikuai Beach ,West Sumatra ,Indonesia

Sikuai Beach ,West Sumatra ,Indonesia

Fort de Kock, Bukittinggi