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The molecular basis of Dutch infantile nephropathic cystinosis
Sandra G. Heil
,
Elena Levtchenko
, Leo A.H. Monnens
, Frans J.M. Trijbels
, Nathalie M.J. Van Der Put
, Henk J. Blom
*
*
Corresponding author for this work
Radboud University Nijmegen
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Keyphrases
Nephropathic Cystinosis
100%
Cystine
100%
Clinical Features
20%
Molecular Genetic Analysis
20%
Leukocytes
20%
Cornea
20%
Fibroblasts
20%
Mutation Analysis
20%
Lysosomal Storage Disease
20%
Genome Sequencing
20%
Exon
20%
Screening Method
20%
Inborn Errors of Metabolism
20%
Autosomal Recessive Inheritance
20%
Gene Coding
20%
Prenatal Diagnosis
20%
Oral Therapy
20%
Renal Fanconi Syndrome
20%
Genotype-phenotype Association
20%
Inheritance Pattern
20%
Caucasian Patients
20%
Lysosome
20%
Integral Membrane Protein
20%
Cysteamine
20%
CTNS Gene
20%
Cystinosin
20%
Medicine and Dentistry
Cystinosis
100%
Cystine
100%
Allele
40%
Genome Sequencing
20%
Cysteamine
20%
Leukocyte
20%
Clinical Feature
20%
Genetic Analysis
20%
Lysosome
20%
Autosomal Recessive Inheritance
20%
Lysosomal Storage Disease
20%
Fibroblast
20%
Amino Acid
20%
Exon
20%
Inborn Error of Metabolism
20%
Membrane Protein
20%
Prenatal Diagnosis
20%
Fanconi Syndrome
20%
Biochemistry, Genetics and Molecular Biology
Cystine
100%
Allele
40%
Genome Sequencing
20%
Genotyping
20%
Exon
20%
Fibroblast
20%
Amino Acid
20%
Leukocyte
20%
Autosomal Recessive Inheritance
20%
Inborn Error of Metabolism
20%
Lysosome
20%
Integral Membrane Protein
20%
Cysteamine
20%
CTNS (Gene)
20%
Pharmacology, Toxicology and Pharmaceutical Science
Cystinosis
100%
Cystine
100%
Membrane Protein
20%
Amino Acid
20%
Cysteamine
20%
Lysosome Storage Disease
20%
Clinical Feature
20%
Fanconi Renotubular Syndrome
20%
Inborn Error of Metabolism
20%