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Titel : Accreditatie =Accreditatie
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LAZIO
ROMA

Biochemical diagnosis of phenylketonuria, typical and atypical
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of alkaptonuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of tyrosinemia type 1, 2 and 3
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hawkinsinuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of aromatic L-aminoacid decarboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of histidinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of carnosinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of 5-oxoprolinase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of gamma-glutamyl transpeptidase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of pyroglutamicaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hyperprolinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of prolidase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hyperornithinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Diagnosis of triple H syndrome
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of argininosuccinicaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of carbamoylphosphatase synthetase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of argininemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of citrullinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of ornithine carbomoyltransferase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of N-acetylglutamate synthetase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of glutaryl-CoA dehydrogenase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hyperlysinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of homocystinuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of N5-methylhomocysteine transferase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of sulfite oxidase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of sarcosinemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of 4-hydroxybutyricaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of gamma aminobutyric acid transaminase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of homocarnosinosis
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of lysinuric protein intolerance
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of dibasicaminoaciduria type 1
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Hartnup syndrome
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of cystinosis
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of cystinuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of leucinosis
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of acidemia and methylmalonicaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of propionic acidemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of isovaleric acidemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of 3-methylglutaconicaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of mevalonicaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of betaketothiolase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of multiple carboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Canavan's disease
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of 2-hycroxyglutaricaciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of fructose intolerance
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of galactosemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of pentosuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hyperoxaluria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of hyperglycerolemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of D-glycericacidemia
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of pyruvate carboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of fumaric aciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of orotic aciduria hereditary
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of CDG syndrome, 1a and 1b type
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of chondrodysplasia punctata, rhizomelic form
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of autosomal adrenoleukodystrophy, neonatal and pseudoneonatal form
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of deficiency of acyl-CoA dehydrogenase, short, medium and very long chain
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of multiple acyl-CoA deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of ethylmalonic aciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of deficiency of 3-hydroxyacyl-CoA dehydrogenase, long and short chain
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of mitochondrial trifunctional protein deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of carnitine-palmitoyl transferase deficiency, 1 and 2
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of carnitine uptake deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of carnitine-acylcarnitine translocase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of succinyl-CoA acetoacetate transferase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of malonic aciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of HPRT deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of purine nucleoside phosphorylase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of xanthinuria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of molybdenum cofactor deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of 2,8 dihydroxyadenine urolithiasis
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of dihydropyrimidine and dihydropyrimidine dehydrogenase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of gangliosidosis GM1 and GM2
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemcial diagnosis of mucolipidosis type 4
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of Refsum disease
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical and molecular diagnosis of Smith-Lemli-Opitz syndrome (DHCR7 gene)
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Zellweger syndrome
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of sialidosis type 1 and 2
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Refsum disease, infantile form
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of X-linked adrenoleukodystrophy
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of bifunctional enzyme deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of guanidinoacetate methyltransferase deficiency
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Menkes syndrome
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of Wilson disease
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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LAZIO
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Biochemical diagnosis of ethylmalonic encephalopathy
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

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Biochemical diagnosis of 3-hydroxyisobutyric aciduria
IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest