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Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

Osteoporosis international, 2017-11, Vol.28 (11), p.3277-3280

2017

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Serum creatine kinase isoenzymes in children with osteogenesis imperfecta

Osteoporosis international, 2017, Vol.28 (1), p.339-346

2017

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Reliability of Vertebral Fractures Assessment (VFA) in Children with Osteogenesis Imperfecta

Calcified tissue international, 2015-04, Vol.96 (4), p.307-312

2015

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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.875-881

2011

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Taurine deficiency in thalassemia major-induced osteoporosis treated with neridronate

Biomedicine & pharmacotherapy, 2010-04, Vol.64 (4), p.271-274

2010

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Abnormal intestinal permeability in children with autism

Acta Paediatrica, 1996-09, Vol.85 (9), p.1076-1079

1996

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Erratum to: Serum creatine kinase isoenzymes in children with osteogenesis imperfecta

Osteoporosis international, 2017, Vol.28 (1), p.347-348

2017

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Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.105-105

2007

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Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency

Biochimica et biophysica acta, 1999-01, Vol.1453 (1), p.135-140

1999

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Fatty acid profile of oesophageal mucosa in children with gastro-oesophageal reflux disease

Digestive and liver disease, 2003-10, Vol.35 (10), p.694-700

2003

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Food allergy and infantile autism

Panminerva medica, 1995-09, Vol.37 (3), p.137

1995

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Increased taurine content in esophageal mucosa of children affected by gastroesophageal reflux

Digestive diseases and sciences, 2001-04, Vol.46 (4), p.808-814

2001

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Low serum tryptophan to large neutral amino acids ratio in idiopathic infantile autism

Biomedicine & pharmacotherapy, 1995, Vol.49 (6), p.288-292

1995

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Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase

Advances in experimental medicine and biology, 1998, Vol.431, p.177

1998

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SANDIFER'S SYNDROME IN A BREAST-FED INFANT

American journal of perinatology, 2000, Vol.17 (3), p.147-150

2000

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Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III

Journal of pediatric orthopaedics. B, 2019-03, Vol.28 (2), p.179-185

2019

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Metabolic alkalosis

Acta Paediatrica, 1996-12, Vol.85 (12), p.1518-1518

1996

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Immunological abnormalities in a patient with tyrosinaemia type III

Journal of inherited metabolic disease, 1995-05, Vol.18 (3), p.355-356

1995

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Radial head dislocation and malalignment in osteogenesis imperfecta type V: case report, pitfalls in the treatment, and review of the literature

Journal of pediatric orthopaedics. B, 2018-07, Vol.27 (4), p.375-378

2018

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Erythrocyte and plasma levels of glutamate and aspartate in children affected by migraine

Cephalalgia, 1997, Vol.17 (6)

D'Eufemia, P

1997

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Neutrophil glutamine deficiency in relation to genotype in children with cystic fibrosis

Pediatric research, 2006, Vol.59 (1), p.13-16

2006

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Serum brain-type creatine kinase increases in children with osteogenesis imperfecta during neridronate treatment

Pediatric research, 2014-05, Vol.75 (5), p.626-630

2014

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Two sisters with generalized dystonia associated with homocystinuria

Movement disorders, 1991, Vol.6 (2), p.163-165

1991

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Autoimmune thyroiditis in a case of tyrosinaemia type III

Journal of inherited metabolic disease, 1992-11, Vol.15 (6), p.861-862

1992

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Erythrocyte and Plasma Levels of Glutamate and Aspartate in Children Affected by Migraine

Cephalalgia, 1997-10, Vol.17 (6), p.652-657

1997

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Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

Serum creatine kinase isoenzymes in children with osteogenesis imperfecta

Reliability of Vertebral Fractures Assessment (VFA) in Children with Osteogenesis Imperfecta

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

Taurine deficiency in thalassemia major-induced osteoporosis treated with neridronate

Abnormal intestinal permeability in children with autism

Erratum to: Serum creatine kinase isoenzymes in children with osteogenesis imperfecta

Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction

Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency

Fatty acid profile of oesophageal mucosa in children with gastro-oesophageal reflux disease

Food allergy and infantile autism

Increased taurine content in esophageal mucosa of children affected by gastroesophageal reflux

Low serum tryptophan to large neutral amino acids ratio in idiopathic infantile autism

Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase

SANDIFER'S SYNDROME IN A BREAST-FED INFANT

Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III

Metabolic alkalosis

Immunological abnormalities in a patient with tyrosinaemia type III

Radial head dislocation and malalignment in osteogenesis imperfecta type V: case report, pitfalls in the treatment, and review of the literature

Erythrocyte and plasma levels of glutamate and aspartate in children affected by migraine

Neutrophil glutamine deficiency in relation to genotype in children with cystic fibrosis

Serum brain-type creatine kinase increases in children with osteogenesis imperfecta during neridronate treatment

Two sisters with generalized dystonia associated with homocystinuria

Autoimmune thyroiditis in a case of tyrosinaemia type III

Erythrocyte and Plasma Levels of Glutamate and Aspartate in Children Affected by Migraine

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