Literature DB >> 2850549

The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy.

M S Golbus1, T J Simpson, M Koresawa, Z Appelman, C E Alpers.   

Abstract

Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency.

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Year:  1988        PMID： 2850549     DOI： 10.1002/pd.1970080603

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  8 in total

Review 1.  Fetal drug metabolism and its possible clinical implications.

Authors:  B Krauer; P Dayer
Journal:  Clin Pharmacokinet       Date:  1991-07       Impact factor: 6.447

Review 2.  Prenatal diagnosis of enzyme defects.

Authors:  B Winchester
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

3.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Fetal tissue sampling. The San Francisco experience with 190 pregnancies.

Authors:  M S Golbus; K F McGonigle; J D Goldberg; R A Filly; P W Callen; R L Anderson
Journal:  West J Med       Date:  1989-04

5.  Unreliability of platelet glucose-6-phosphatase for the diagnosis of glycogen storage disease type Ia.

Authors:  J D Goldberg; S C Treleaven; M Koresawa; T Simpson; M S Golbus
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 6.  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

7.  Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

Authors:  Nestor W Meza; Maria E Alonso-Ferrero; Susana Navarro; Oscar Quintana-Bustamante; Antonio Valeri; Maria Garcia-Gomez; Juan A Bueren; Jose M Bautista; Jose C Segovia
Journal:  Mol Ther       Date:  2009-09-15       Impact factor: 11.454

8.  Gene therapy of Csf2ra deficiency in mouse fetal monocyte precursors restores alveolar macrophage development and function.

Authors:  Fengqi Li; Katarzyna Maria Okreglicka; Federica Piattini; Lea Maria Pohlmeier; Christoph Schneider; Manfred Kopf
Journal:  JCI Insight       Date:  2022-04-08
  8 in total

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