Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy-Reference-Cited by-同舟云学术

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Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy

Published:2002-02 Issue:1 Volume:25 Page:41-46
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Kikawa Y.¹,Shin Y. S.²,Inuzuka M.³,Zammarchi E.⁴,Mayumi M.¹

Affiliation:

1. ; Department of Pediatrics; Fukui Medical University; Matsuoka, Fukui Japan

2. ; Children's Hospital; University of Munich, Munich; Germany

3. ; Department of Chemistry; Fukui Medical University; Matsuoka, Fukui Japan

4. ; Department of Pediatrics; University of Florence, Meyer Hospital; Florence Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1015129616599/fullpdf

Reference14 articles.

1. Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity;Baker;Lancet,1970

2. Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity;Besley;J Inherit Metab Dis,1994

3. Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency;Bührdel;Eur J Pediatr,1990

4. Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency;El-Maghrabi;Genomics,1995

5. Investigation of inborn errors of metabolism in unexpected infant deaths;Emery;Lancet,1970

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2. Characterization based on genotype–biochemical phenotype association in fructose-1,6-bisphosphatase deficiency;2022-11-02

3. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1;Journal of Pediatric Endocrinology and Metabolism;2022-02-18

4. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism;Genetic Disorders and the Fetus;2021-04-20

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