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Prenatal diagnosis of glycogen storage disease type IV
H. Orhan Akman
, Charalampos Karadimas
, Yolanda Gyftodimou
, Maria Grigoriadou
, Haris Kokotas
, Anastasia Konstantinidou
, Hector Anninos
, Efstratios Patsouris
,
Harshwardhan M. Thaker
, Jeffrey B. Kaplan
, Isaam Besharat
, Konstantina Hatzikonstantinou
, Spyridon Fotopoulos
, Salvatore DiMauro
, Michael B. Petersen
Research output
:
Contribution to journal
›
Article
›
peer-review
31
Scopus citations
Overview
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Keyphrases
At Birth
20%
Autopsy
20%
Autosomal Recessive
20%
Birth-death
20%
Branching Enzyme
20%
Chorionic Villi
40%
Confirmed Cases
20%
Cultured Amniocytes
20%
DNA Analysis
60%
Enzyme Activity
20%
Enzyme Activity Analysis
20%
Fetus
20%
GBE1
20%
GBE1 Gene
20%
Glycogen
20%
Glycogen Branching Enzyme
40%
Glycogen Storage Disease Type IV
100%
Highly Accurate
20%
Hypotonia
20%
Intracellular Inclusions
20%
Neonatal Period
20%
Pathological Findings
20%
Prenatal Diagnosis
100%
Proband
20%
Subsequent Pregnancy
20%
Villus Cells
20%
Week of Gestation
20%
Medicine and Dentistry
1,4 Alpha Glucan Branching Enzyme
60%
Amniocyte
20%
Autosomal Recessive Disorder
20%
Chorion Villus
40%
DNA Determination
60%
Enzyme Activity
40%
Glycogen Storage Disease Type IV
100%
Hypotonia
20%
Neonatal Period
20%
Newborn Period
20%
Prenatal Diagnosis
100%
Biochemistry, Genetics and Molecular Biology
Amnion Cell
33%
Autosomal Recessive Disorder
33%
Chorion Villus
66%
Deficiency
33%
DNA Analysis
100%
Enzyme Activity
66%
Glycogen Branching Enzyme
66%
Newborn Period
33%
Proband
33%