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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two mainExpand
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A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
The insulin-like growth factors (IGFs; somatomedins) comprise a family of peptides that play important roles in mammalian growth and development. The principal members of this family are IGF1 andExpand
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Detection of Helicobacter pylori in stool specimens by non-invasive antigen enzyme immunoassay in children: multicentre Italian study
Helicobacter pylori infection is mainly acquired in childhood and may predispose to peptic ulcer or gastric cancer later in life.1 Non-invasive diagnostic tools are particularly useful in children asExpand
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Down syndrome and breastfeeding
Aim: The aim of the study was to investigate the frequency of breastfeeding among children with Down syndrome. Methods: The mothers of 560 children with Down syndrome attending four universityExpand
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Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features includeExpand
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Early detection of podiatric anomalies in children with Down syndrome.
AIMS To verify the importance of podiatric evaluation in patients with Down syndrome for the early diagnosis and treatment of minor orthopaedic problems. METHODS Case-control study of 50 childrenExpand
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Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Abstract Background: Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as storage compounds inExpand
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Prevalence and Natural History of Gastroesophageal Reflux: Pediatric Prospective Survey
OBJECTIVE. The prevalence and natural history of gastroesophageal reflux in infants have been poorly documented. The aim of this study was to evaluate the prevalence and natural history of infantExpand
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Expression of proinflammatory and Th1 but not Th2 cytokines is enhanced in gastric mucosa of Helicobacter pylori infected children.
BACKGROUND Helicobacter pylori-induced gastric inflammation is thought to be largely regulated by cytokines. PATIENTS AND METHODS The expression of interferon-gamma, interleukin-12, interleukin-4,Expand
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Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods.
Pulmonary disease of unknown etiology is a potentially fatal complication in patients with lysinuric protein intolerance (LPI), an autosomal recessive disorder caused by the defective transport ofExpand
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