WordNet

the 9th letter of the Roman alphabet (同)i
the 7th letter of the Roman alphabet (同)g

PrepTutorEJDIC

『私は』私が
iodineの化学記号

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. グルコース-6-ホスファターゼ欠損症（糖原病I型、フォンギールケ病）glucose 6 phosphatase deficiency glycogen storage disease i von gierke disease [show details]
… growth, and doll-like facies. In a report from the collaborative European study on GSD I, patients with GSD Ia and GSD Ib presented at a median age of six months (range 1 day to 12 years) and four months …
2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要overview of inherited disorders of glucose and glycogen metabolism [show details]
… Beta-enolase deficiency (GSD XIII) Phosphoglucomutase-1 deficiency (GSD XIV) Glycogenin-1 deficiency (GSD XV) RBCK1 deficiency ; The following websites have information available for clinicians and patients: …
3. グリコーゲン脱分枝酵素欠損症（糖原病III型）glycogen debrancher deficiency glycogen storage disease iii [show details]
…This topic will review glycogen debrancher deficiency (GSD III). An overview of GSD is presented separately. Glycogen debrancher deficiency (GSD III, MIM #232400) is also known as Cori disease, Forbes …
4. 肝グリコーゲン合成酵素欠損症（糖原病0型）liver glycogen synthase deficiency glycogen storage disease 0 [show details]
…regulation. Those disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSDs). They have largely been categorized by number according to the chronology of recognition …
5. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病）liver phosphorylase deficiency glycogen storage disease vi hers disease [show details]
… known as glycogen storage diseases (GSDs). They have largely been categorized by number according to the chronology of recognition of the responsible enzyme defect Liver phosphorylase deficiency (GSD VI, MIM …

English Journal

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

Choi R1, Park HD2, Kang B3, Choi SY3, Ki CS1, Lee SY1, Kim JW1, Song J4, Choe YH5.
BMC medical genetics.BMC Med Genet.2016 Apr 21;17(1):33. doi: 10.1186/s12881-016-0295-1.
BACKGROUND: Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX.METHODS: Thirteen Korean patients were tested fo
PMID 27103379

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Hoogeveen IJ1, van der Ende RM1, van Spronsen FJ1, de Boer F1, Heiner-Fokkema MR1,2, Derks TG3.
JIMD reports.JIMD Rep.2015 Nov 3. [Epub ahead of print]
BACKGROUND: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.METHODS: A retrospective cohort study of biochemical profiles from supervised clinical f
PMID 26526422

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Kim JA1, Kim JH1, Lee BH1, Kim GH2, Shin YS3, Yoo HW1, Kim KM1.
Pediatric gastroenterology, hepatology & nutrition.Pediatr Gastroenterol Hepatol Nutr.2015 Jun;18(2):138-43. doi: 10.5223/pghn.2015.18.2.138. Epub 2015 Jun 29.
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is on
PMID 26157701

Japanese Journal

ミオパチーの治療―マネージメントから遺伝子治療まで　　筋型糖原病の治療法開発

杉江秀夫
脳と発達 36(2), 136-140, 2004
… Therapeutic trials in progress include the combined use of vitamin B6 and cornstarch for GSD type V, enzyme replacement therapy using rh-alpha-glucosidase for GSD type II, and ketogenic diet for GSD type IX. …
NAID 130004183651