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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

American journal of human genetics, 2006-07, Vol.79 (1), p.31-40

2006

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[Translated article] Fractures of the lateral condyle of the humerus associated with elbow dislocation in children. A systematic review of the literature

Revista española de cirugía ortopédica y traumatología, 2022-03, Vol.66 (2), p.T95-T104

2022

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Fracturas del cóndilo lateral del húmero asociadas a luxación de codo en niños. Una revisión sistemática de la literatura

Revista española de cirugía ortopédica y traumatología, 2022-03, Vol.66 (2), p.95-104

2022

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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

Clinical genetics, 2010-03, Vol.77 (3), p.249-257

2010

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Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

Neurology, 2009-08, Vol.73 (8), p.633-637

2009

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Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

Neurology, 2003-02, Vol.60 (4), p.674-682

2003

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Fracturas del cóndilo lateral del húmero asociadas a luxación de codo en niños. Una revisión sistemática de la literatura

Revista española de cirugía ortopédica y traumatología, 2022-03, Vol.66 (2), p.95-104

2022

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[Translated article] Fractures of the lateral condyle of the humerus associated with elbow dislocation in children. A systematic review of the literature

Revista española de cirugía ortopédica y traumatología, 2022-03, Vol.66 (2), p.T95-104

2022

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A novel mutation in the GLUT2 gene in a patient with Fanconi‐Bickel syndrome detected by neonatal screening for galactosaemia

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.279-280

2004

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Cardiac Response to Enzyme-Replacement Therapy in Gaucher's Disease

The New England journal of medicine, 1998-10, Vol.339 (16), p.1165-1166

1998

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Comparison between SLC3A1 and SLC7A9 Cystinuria patients and carriers: A need for a new classification

Journal of the American Society of Nephrology, 2002-10, Vol.13 (10), p.2547-2553

2002

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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

American journal of human genetics, 1998-07, Vol.63 (1), p.71-79

1998

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Dihydropteridine reductase deficiency in man: From biology to treatment

Medicinal research reviews, 2004-03, Vol.24 (2), p.127-150

2004

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Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

European journal of pediatrics, 1993-08, Vol.152 (8), p.655-661

1993

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Dilemmas and progress in mutation detection

Trends in genetics, 1993-12, Vol.9 (12), p.403-405

1993

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Cystinuria phenotyping by oral lysine and arginine loading

Clinical nephrology, 2001-12, Vol.56 (6), p.467

2001

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Genetic history of phenylketonuria mutations in Italy

American journal of human genetics, 1994-10, Vol.55 (4), p.851-853

1994

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Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy

Human mutation, 1999-12, Vol.14 (6), p.451-453

1999

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Genotype–phenotype correlation in dihydropteridine reductase deficiency

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.333-337

2000

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Implementing Enhanced Recovery After Surgery for hysterectomy in a hospital network with audit and feedback: A stepped‐wedge cluster randomised trial

BJOG : an international journal of obstetrics and gynaecology, 2024-08, Vol.131 (9), p.1207-1217

2024

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Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.231-233

1996

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Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

Clinica chimica acta, 1993-07, Vol.216 (1), p.63-71

1993

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Characterization of phenylketonuria alleles in the Italian population

European journal of human genetics : EJHG, 1995, Vol.3 (5), p.294-302

1995

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Tetrahydrobiopterin loading test in hyperphenylalaninemia

Pediatric research, 1991-11, Vol.30 (5), p.435-438

1991

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Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.236-239

1998

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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

[Translated article] Fractures of the lateral condyle of the humerus associated with elbow dislocation in children. A systematic review of the literature

Fracturas del cóndilo lateral del húmero asociadas a luxación de codo en niños. Una revisión sistemática de la literatura

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

Fracturas del cóndilo lateral del húmero asociadas a luxación de codo en niños. Una revisión sistemática de la literatura

[Translated article] Fractures of the lateral condyle of the humerus associated with elbow dislocation in children. A systematic review of the literature

A novel mutation in the GLUT2 gene in a patient with Fanconi‐Bickel syndrome detected by neonatal screening for galactosaemia

Cardiac Response to Enzyme-Replacement Therapy in Gaucher's Disease

Comparison between SLC3A1 and SLC7A9 Cystinuria patients and carriers: A need for a new classification

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Dihydropteridine reductase deficiency in man: From biology to treatment

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

Dilemmas and progress in mutation detection

Cystinuria phenotyping by oral lysine and arginine loading

Genetic history of phenylketonuria mutations in Italy

Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy

Genotype–phenotype correlation in dihydropteridine reductase deficiency

Implementing Enhanced Recovery After Surgery for hysterectomy in a hospital network with audit and feedback: A stepped‐wedge cluster randomised trial

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

Characterization of phenylketonuria alleles in the Italian population

Tetrahydrobiopterin loading test in hyperphenylalaninemia

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

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