|
1
|
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
|
J Inherit Metab Dis
|
2005
|
1.07
|
|
2
|
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
|
Acta Paediatr
|
2003
|
0.97
|
|
3
|
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
|
J Inherit Metab Dis
|
2006
|
0.91
|
|
4
|
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?
|
J Inherit Metab Dis
|
2008
|
0.86
|
|
5
|
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
|
Eur J Pediatr
|
2008
|
0.86
|
|
6
|
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.
|
Am J Med Genet
|
1999
|
0.85
|
|
7
|
Management of otolaryngological manifestations in mucopolysaccharidoses: our experience.
|
Acta Otorhinolaryngol Ital
|
2013
|
0.79
|
|
8
|
Epilepsy in inherited metabolic disorders: a pediatric series.
|
Minerva Pediatr
|
2012
|
0.77
|
|
9
|
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
|
Horm Res Paediatr
|
2013
|
0.77
|
|
10
|
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
|
Eur J Paediatr Neurol
|
2011
|
0.76
|
|
11
|
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
|
Am J Med Genet
|
1996
|
0.75
|
|
12
|
[Children weeping during medical examination].
|
Riv Clin Pediatr
|
1971
|
0.75
|
|
13
|
[Bronchial asthma in childhood with special reference to vaccine therapy].
|
Minerva Pediatr
|
1969
|
0.75
|
|
14
|
[On the therapy of infectious bronchopneumopathies in children].
|
Minerva Pediatr
|
1967
|
0.75
|
|
15
|
Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement.
|
Neuropediatrics
|
2000
|
0.75
|