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Transaldolase deficiency: A new case expands the phenotypic spectrum
Ehud Banne
, Vardiella Meiner
, Avraham Shaag
, Rachel Katz-Brull
, Ayelet Gamliel
, Stanley Korman
, Smadar Horowitz Cederboim
, Morasha Plesser Duvdevani
, Ayala Frumkin
, Amir Zilkha
,
Vadim Kapuller
, Dan Arbell
, Elite Cohen
, Smadar Eventov-Friedman
Research output
:
Chapter in Book/Report/Conference proceeding
›
Chapter
›
peer-review
16
Scopus citations
Overview
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Dive into the research topics of 'Transaldolase deficiency: A new case expands the phenotypic spectrum'. Together they form a unique fingerprint.
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Keyphrases
Transaldolase Deficiency
100%
Phenotypic Spectrum
100%
TALDO1
50%
Intestine
25%
Clinical Characteristics
25%
Anemia
25%
Selective Intrauterine Growth Restriction (sIUGR)
25%
Clinical Manifestations
25%
Small-for-gestational Age
25%
Abdominal Surgery
25%
Brain MRI
25%
Liver Failure
25%
Thrombocytopenia
25%
Compound Heterozygous mutation
25%
Liver Biopsy
25%
Laparotomy
25%
Glands
25%
Platelet Transfusion
25%
Stop mutation
25%
Intestinal Obstruction
25%
Hepatosplenomegaly
25%
Echogenic Bowel
25%
Dysmorphic Features
25%
Liver Dysfunction
25%
Urine Analysis
25%
Hypotonia
25%
Partial Resection
25%
Ileostomy
25%
1H nuclear Magnetic Resonance (1H NMR)
25%
Gestational Thrombocytopenia
25%
T4 Treatment
25%
Transaldolase
25%
Sedoheptulose
25%
Hypertrichosis
25%
Metabolic Assay
25%
Portal Fibrosis
25%
Meconium Plug
25%
Anisocoria
25%
Cutis Laxa
25%
Severe Hypothyroidism
25%
Gene Encoding
25%
Glycosylation Defect
25%
Rare Syndromes
25%
Medicine and Dentistry
Transaldolase
100%
Thrombocytopenia
40%
Anemia
20%
Intrauterine Growth Retardation
20%
Laparotomy
20%
Digestive System Surgery
20%
Fibrosis
20%
Small for Gestational Age
20%
Meconium ileus
20%
Bowel Obstruction
20%
Proton Nuclear Magnetic Resonance
20%
Urinalysis
20%
Thrombocyte Transfusion
20%
Hypothyroidism
20%
Liver Biopsy
20%
Hepatosplenomegaly
20%
Echogenic Bowel
20%
Hypotonia
20%
Glycosylation
20%
Ileostomy
20%
Liver Failure
20%
Liver Dysfunction
20%
Magnetic Resonance Imaging of Brain
20%
Dysmorphic Feature
20%
Hypertrichosis
20%
Cutis Laxa
20%
Anisocoria
20%
Biochemistry, Genetics and Molecular Biology
Transaldolase
100%
Deficiency
100%
Thrombocytopenia
40%
Glycosylation
20%
Small for Date Infant
20%
Prenatal Growth
20%
Platelet
20%
Magnetic Resonance Imaging
20%