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Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure
by
Di Pietro, Valentina
,
Perruzza, Italia
,
Amorini, Angela Maria
,
Balducci, Alessandro
,
Ceccarelli, Lia
,
Lazzarino, Giuseppe
,
Barsotti, Paola
,
Giardina, Bruno
,
Tavazzi, Barbara
Published in
Clinical biochemistry
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Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel muta...
by
Perruzza, Italia
,
Di Pietro, Valentina
,
Tavazzi, Barbara
,
Lazzarino, Giuseppe
,
Gamberini, Marco
,
Barsotti, Paola
,
Amorini, Angela Maria
,
Giardina, Bruno
,
Balducci, Alessandro
Published in
Clinical kidney journal
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In Vivo Assessment of Intact Parathyroid Hormone Adsorption by Different Dialysis Membranes During Hemodialysis
by
Balducci, Alessandro
,
Coen, Giorgio
,
Manni, Micaela
,
Perruzza, Italia
,
Fassino, Valeria
,
Sardella, Daniela
,
Grandi, Fabio
Published in
Artificial organs
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Artificial Organs
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Clinical Biochemistry
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Clinical Kidney Journal
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Ndt Plus
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Life Sciences & Biomedicine
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Science & Technology
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Humans
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Middle Aged
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Renal Failure
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Urolithiasis
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2,8-Dihydroxyadenine
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Acrylic Resins
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Adenine - Blood
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Adenine - Urine
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Adenine Phosphoribosyltransferase - Blood
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Adenine Phosphoribosyltransferase - Deficiency
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Adenine Phosphoribosyltransferase - Genetics
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Adenine Phosphoribosyltransferase - Urine
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Adenine Phosphoribosyltransferase Deficiency
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Adsorption
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Alleles
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Aprt Deficiency
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Base Pairing
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Biocompatible Materials
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Oup 牛津大学出版社Oa刊
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