| P2093 | author name string | M Di Rocco | |
| | R Guerrini | |
| | M Filocamo | |
| | A d'Azzo | |
| | F Traverso | |
| | E Zammarchi | |
| | S Grossi | |
| | A Caciotti | |
| | A Messeri | |
| | Amelia Morrone | |
| | C Cavicchi | |
| | M A Donati | |
| P2860 | cites work | Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation | Q31980558 |
| | Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex | Q33898327 |
| | Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis | Q33924296 |
| | Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient | Q34084901 |
| | Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. | Q34101168 |
| | Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes | Q34112807 |
| | Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient. | Q34133659 |
| | Pathological study on a severe sialidosis (alpha-neuraminidase deficiency). | Q36481831 |
| | Neuraminidase deficiency: case report and review of the phenotype | Q39772950 |
| | Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression | Q40604011 |
| | Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites | Q44989094 |
| | The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update | Q45237572 |
| | Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant | Q48142476 |
| | Elevated plasma chitotriosidase activity in various lysosomal storage disorders. | Q51017309 |
| | Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. | Q52103898 |
| | Congenital sialidosis | Q64050009 |
| | Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis | Q68023048 |
| | [Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid] | Q68945583 |
| | [Primary neuraminidase deficiency with prenatal disclosure] | Q69571241 |
| | The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene | Q69870952 |
| | Congenital ascites as a presenting sign of lysosomal storage disease | Q70463452 |
| | Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study | Q70507675 |
| | Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype | Q70895964 |
| | A severe infantile mucolipidosis. Clinical, biochemical, and pathologic features | Q71243744 |
| | Neuraminidase deficiency presenting as non-immune hydrops fetalis | Q72834626 |
| | [Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis] | Q74083790 |
| | Clinical variability of type II sialidosis by C808T mutation | Q78775987 |
| | Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean? | Q81037873 |
| | Plasma chitotriosidase in lysosomal storage diseases | Q81297422 |
| | Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase | Q81772399 |
| | [Anesthetic management of a boy with sialidosis] | Q83372118 |
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | sialidosis | Q55787312 |
| P304 | page(s) | 1911-1915 | |
| P577 | publication date | 2009-07-01 | |
| P1433 | published in | Journal of Neurology | Q6295649 |
| P1476 | title | Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients | |
| P478 | volume | 256 | |