phosphorylase deficiency

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency
• 2. 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
• 3. ホスホリラーゼbキナーゼ欠損症 phosphorylase b kinase deficiency
• 4. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 5. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment

English Journal

• Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.

• Somech R, Lev A, Grisaru-Soen G, Shiran SI, Simon AJ, Grunebaum E.SourceCancer Research Center, Pediatric Department, Pediatric Immunology Service, Jeffery Modell Foundation (JMF) Center, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, rsomech@hotmail.com.
• Immunologic research.Immunol Res.2013 May;56(1):150-4. doi: 10.1007/s12026-012-8380-9.
• Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive genetic disorder of the purine salvage pathway, associated with a variable extent of immunodeficiency. Here, we report a PNP-deficient patient who presented early in life with clinical and laboratory characteristics of severe
• PMID 23371835

• Laforin Prevents Stress-Induced Polyglucosan Body Formation and Lafora Disease Progression in Neurons.

• Wang Y, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y.SourceSection of General Surgery, Department of Surgery, University of Michigan Medical Center, Ann Arbor, MI, 48109, USA.
• Molecular neurobiology.Mol Neurobiol.2013 Apr 2. [Epub ahead of print]
• Glycogen, the largest cytosolic macromolecule, is soluble because of intricate construction generating perfect hydrophilic-surfaced spheres. Little is known about neuronal glycogen function and metabolism, though progress is accruing through the neurodegenerative epilepsy Lafora disease (LD) protein
• PMID 23546741

Japanese Journal

• 臨床研究・症例報告 軽度の肝腫大,肝障害で経過観察されていたX連鎖性肝型ホスホリラーゼbキナーゼ欠損症の双胎児

• 西尾 信博,邊見 勇人,佐々木 明
• 小児科臨床 65(2), 243-247, 2012-02
• NAID 40019146471

Related Links

• Purine nucleoside phosphorylase deficiency - Genetics Home ...

Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from ...

• Muscle phosphorylase deficiency - RightDiagnosis.com

Muscle phosphorylase deficiency symptoms, causes, diagnosis, and treatment information for Muscle phosphorylase deficiency (McArdle disease) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...

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★リンクテーブル★

拡張検索	「purine nucleotide phosphorylase deficiency」「hepatophosphorylase deficiency glycogenosis」「muscle phosphorylase deficiency」
関連記事	「deficiency」

「purine nucleotide phosphorylase deficiency」

　　[★]

同

PNP deficiency

同

PNP deficiency

「hepatophosphorylase deficiency glycogenosis」

　　[★] 肝ホスホリラーゼ欠損性糖原病

「muscle phosphorylase deficiency」

　　[★] 筋ホスホリラーゼ欠損症

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve