| Nome |
# |
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Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study, file dfe4d229-d75a-bb0a-e053-d805fe0a78d9
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38
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Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease, file dfe4d22b-a7b5-bb0a-e053-d805fe0a78d9
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28
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Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily, file dfe4d229-8273-bb0a-e053-d805fe0a78d9
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25
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A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses, file dfe4d229-9654-bb0a-e053-d805fe0a78d9
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24
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COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases, file dfe4d22d-7ce7-bb0a-e053-d805fe0a78d9
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19
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Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content, file dfe4d22b-1992-bb0a-e053-d805fe0a78d9
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18
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Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy, file dfe4d229-f126-bb0a-e053-d805fe0a78d9
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17
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Mucopolysaccharidoses: early diagnostic signs in infants and children, file dfe4d22c-cc48-bb0a-e053-d805fe0a78d9
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17
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COG6-CDG: Novel variants and novel malformation, file dfe4d22e-731d-bb0a-e053-d805fe0a78d9
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16
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings, file dfe4d22e-da0b-bb0a-e053-d805fe0a78d9
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16
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Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease., file dfe4d22a-8fab-bb0a-e053-d805fe0a78d9
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15
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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome, file dfe4d227-141b-bb0a-e053-d805fe0a78d9
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13
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MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI, file dfe4d227-5075-bb0a-e053-d805fe0a78d9
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13
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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy, file dfe4d22c-cc45-bb0a-e053-d805fe0a78d9
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13
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Primary headache in childhood associated with psychiatric disturbances: An update, file c415a9d8-1a89-4c87-8f44-ff4ad0a6dbf7
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12
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group, file dfe4d228-174c-bb0a-e053-d805fe0a78d9
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11
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Imaging findings of mucopolysaccharidoses: a pictorial review., file dfe4d227-7bea-bb0a-e053-d805fe0a78d9
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10
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Quantitative analysis of upright standing in adults with late-onset Pompe disease, file dfe4d227-9953-bb0a-e053-d805fe0a78d9
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10
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Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction?, file dfe4d22b-9a2c-bb0a-e053-d805fe0a78d9
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10
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Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C., file dfe4d22c-cc42-bb0a-e053-d805fe0a78d9
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10
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Hypoglossal nerve paralysis in a child after a dental procedure, file dfe4d22c-e62f-bb0a-e053-d805fe0a78d9
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10
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Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients, file dfe4d22e-7cfd-bb0a-e053-d805fe0a78d9
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10
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Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), file dfe4d22e-c0ea-bb0a-e053-d805fe0a78d9
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10
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Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of
glycosylation (CDG), file dfe4d228-139d-bb0a-e053-d805fe0a78d9
|
9
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care, file dfe4d22c-caa7-bb0a-e053-d805fe0a78d9
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9
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Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report., file dfe4d22b-5443-bb0a-e053-d805fe0a78d9
|
8
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Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype, file dfe4d22c-8e80-bb0a-e053-d805fe0a78d9
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8
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Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion, file 30205734-6331-4261-ad06-ca71b7fa6f52
|
7
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy., file dfe4d227-b68e-bb0a-e053-d805fe0a78d9
|
7
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Mucopolysaccharidosis at play? viewpoint, file dfe4d22c-e7dc-bb0a-e053-d805fe0a78d9
|
7
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Anti-mog associated encephalitis: when steroid therapy is not enough, file 52555006-2dc8-4986-9d93-fe7488770c5a
|
6
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Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic, file 66a58717-8d93-49dd-971e-e16cf6f16dd5
|
6
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Epilepsy in patients with Angelman syndrome, file dfe4d227-4a2b-bb0a-e053-d805fe0a78d9
|
6
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Imaging findings of mucopolysaccharidoses, file dfe4d227-85ad-bb0a-e053-d805fe0a78d9
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6
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study., file dfe4d22c-cc44-bb0a-e053-d805fe0a78d9
|
6
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Malformations of cortical development, cognitive involvement and epilepsy: A single institution experience in 19 young patients, file 48dd821b-ee9b-41df-bf88-dfff95efc179
|
5
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|
Hypoglycosylation with increased fucosylation and branching of serum transferrin
N-glycans in untreated galactosemia, file dfe4d227-1260-bb0a-e053-d805fe0a78d9
|
5
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A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype, file 61892aa0-a101-42f2-bbf5-da645f054fca
|
4
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Multiple sclerosis with onset at 35 months of age, file dfe4d226-f6bb-bb0a-e053-d805fe0a78d9
|
4
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Progressive Cavitating Leukoencephalopathy: A Novel Childhood Disease. Ann Neurol 2005 , Dec , 58(6):929-938, IF 8.097, file dfe4d227-3d8f-bb0a-e053-d805fe0a78d9
|
4
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DISTURBI DEL MOVIMENTO, file dfe4d227-51a7-bb0a-e053-d805fe0a78d9
|
4
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Assessment of skeletal status in patients with congenital disorder of glycosylation type IA, file dfe4d227-f7d8-bb0a-e053-d805fe0a78d9
|
4
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|
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder, file dfe4d228-16cd-bb0a-e053-d805fe0a78d9
|
4
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Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome, file ddac1225-d48e-4605-b10d-7bc6bd8dc4fb
|
3
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Coxite brucellare in età pediatrica, file dfe4d227-0d46-bb0a-e053-d805fe0a78d9
|
3
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Extraordinary bone involvement in a Gaucher disease type I patient, file dfe4d227-fad6-bb0a-e053-d805fe0a78d9
|
3
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Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy., file e2986409-df2e-4b59-8918-228521223ce5
|
3
|
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Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients., file e7118b07-272a-4657-b91e-8c23d7fd1255
|
3
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|
Epilepsy is not a prominent feature of primary autism, file dfe4d226-f660-bb0a-e053-d805fe0a78d9
|
2
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|
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene, file dfe4d227-26f9-bb0a-e053-d805fe0a78d9
|
2
|
|
Mutation spectrum of NF1 gene in Italian patients with
neurofibromatosis type 1 using Ion Torrent PGM™ platform, file dfe4d227-2f96-bb0a-e053-d805fe0a78d9
|
2
|
|
Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients., file dfe4d227-322c-bb0a-e053-d805fe0a78d9
|
2
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|
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region, file dfe4d227-37de-bb0a-e053-d805fe0a78d9
|
2
|
|
null, file dfe4d227-38f1-bb0a-e053-d805fe0a78d9
|
2
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|
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mutat. 2007 Feb;28(2):204. IF 7.923, file dfe4d227-3eb2-bb0a-e053-d805fe0a78d9
|
2
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Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia, file dfe4d227-82c9-bb0a-e053-d805fe0a78d9
|
2
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|
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome), file dfe4d229-8c2f-bb0a-e053-d805fe0a78d9
|
2
|
|
Hyperkinetic movement disorders in congenital disorders of glycosylation, file dfe4d229-b5d8-bb0a-e053-d805fe0a78d9
|
2
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ALG12-CDG: novel glycophenotype insights endorse the molecular defect, file dfe4d229-c75c-bb0a-e053-d805fe0a78d9
|
2
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|
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations, file dfe4d22c-c8e8-bb0a-e053-d805fe0a78d9
|
2
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|
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase, file 434828db-08e1-43c9-b1d3-b8cb938255a5
|
1
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|
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases, file 85451eb8-0e2d-49a2-adae-47d41647be08
|
1
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|
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio A Syndrome-Associated Mutations, file c2ea3663-b8c4-44f7-8f23-148a20321273
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1
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|
Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study, file d6978c08-24f2-4ccf-bafe-6619f46f3f88
|
1
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Lateral dermoid cyst of the tongue: case report, file dfe4d226-f6be-bb0a-e053-d805fe0a78d9
|
1
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|
Mucopolysaccharidosis VI: the Italian experience, file dfe4d226-fd70-bb0a-e053-d805fe0a78d9
|
1
|
|
Early miglustat therapy in infantile Niemann-Pick disease type C., file dfe4d227-05a6-bb0a-e053-d805fe0a78d9
|
1
|
|
Rett syndrome phenotype following infantile acute encephalopathy. J Child Neurol 2002, 17(9):700-702 IF 1.333, file dfe4d227-14fc-bb0a-e053-d805fe0a78d9
|
1
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|
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II, file dfe4d227-38d9-bb0a-e053-d805fe0a78d9
|
1
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|
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype., file dfe4d227-401d-bb0a-e053-d805fe0a78d9
|
1
|
|
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. Mol Genet Metab. 2006 Jun;88(2):192-5. Epub 2006 Apr 4. IF 2.678, file dfe4d227-4385-bb0a-e053-d805fe0a78d9
|
1
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|
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.J INHERIT METAB DIS. 2011 APR 5, file dfe4d227-4739-bb0a-e053-d805fe0a78d9
|
1
|
|
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype), file dfe4d227-964e-bb0a-e053-d805fe0a78d9
|
1
|
|
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up, file dfe4d229-896d-bb0a-e053-d805fe0a78d9
|
1
|
|
Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome), file dfe4d229-8b76-bb0a-e053-d805fe0a78d9
|
1
|
|
Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth?, file dfe4d229-9c8d-bb0a-e053-d805fe0a78d9
|
1
|
|
Encefalopatia acuta da probabile deficit cerebrale di acido folico in paziente con iperfenilalaninemia da deficit di DHPR, file dfe4d229-de20-bb0a-e053-d805fe0a78d9
|
1
|
|
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation, file dfe4d22a-78c8-bb0a-e053-d805fe0a78d9
|
1
|
|
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach, file dfe4d22a-c476-bb0a-e053-d805fe0a78d9
|
1
|
|
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease, file dfe4d22b-22ef-bb0a-e053-d805fe0a78d9
|
1
|
|
Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG), file dfe4d22b-55d4-bb0a-e053-d805fe0a78d9
|
1
|
|
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa, file dfe4d22b-9e2f-bb0a-e053-d805fe0a78d9
|
1
|
|
Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application, file dfe4d22c-c8e9-bb0a-e053-d805fe0a78d9
|
1
|
|
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis, file dfe4d22c-e630-bb0a-e053-d805fe0a78d9
|
1
|
|
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center, file dfe4d22c-e631-bb0a-e053-d805fe0a78d9
|
1
|
|
False positive screen test for mucopolysaccharidoses in healthy female newborns, file dfe4d22c-e7db-bb0a-e053-d805fe0a78d9
|
1
|
|
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation, file e1ac98fc-5963-4d42-ae3f-7bfbc3f72648
|
1
|
| Totale |
550 |