Literature DB >> 2308039

Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.

K Hayasaka1, K Tada, N Fueki, J Aikawa.   

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Year:  1990        PMID: 2308039     DOI: 10.1016/s0022-3476(05)82841-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  10 in total

Review 1.  Prenatal diagnosis of enzyme defects--an update.

Authors:  B Winchester; E Young
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

2.  [Clinical and molecular genetic characteristics of nonketotic hyperglycinemia].

Authors:  Hai-Feng Li
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-03

3.  Prenatal diagnosis of non-ketotic hyperglycinaemia: experience in 50 at-risk pregnancies.

Authors:  J R Toone; D A Applegarth; H L Levy
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 4.  Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Authors:  C Cadrin; M S Golbus
Journal:  West J Med       Date:  1993-09

5.  Non-ketotic hyperglycinaemia presenting as pachygyria.

Authors:  J M Fletcher; A M Bye; V Nayanar; B Wilcken
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Prenatal diagnosis of non-ketotic hyperglycinaemia.

Authors:  J R Toone; D A Applegarth; H L Levy
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 7.  Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology.

Authors:  K Tada; S Kure
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Long-term results of selective screening for inborn errors of metabolism.

Authors:  W Lehnert
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

9.  Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.

Authors:  Yun Jin Pai; Kit-Yi Leung; Dawn Savery; Tim Hutchin; Helen Prunty; Simon Heales; Margaret E Brosnan; John T Brosnan; Andrew J Copp; Nicholas D E Greene
Journal:  Nat Commun       Date:  2015-03-04       Impact factor: 14.919

10.  Clinical and biochemical characterization of four patients with mutations in ECHS1.

Authors:  Sacha Ferdinandusse; Marisa W Friederich; Alberto Burlina; Jos P N Ruiter; Curtis R Coughlin; Megan K Dishop; Renata C Gallagher; Jirair K Bedoyan; Frédéric M Vaz; Hans R Waterham; Katherine Gowan; Kathryn Chatfield; Kaitlyn Bloom; Michael J Bennett; Orly Elpeleg; Johan L K Van Hove; Ronald J A Wanders
Journal:  Orphanet J Rare Dis       Date:  2015-06-18       Impact factor: 4.123

  10 in total

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