1,721,016 research outputs found
Executive functions impairment in early treated phenylketonuric (PKU) subjects with normal mental development.
No full textClinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease
No full textPhenotypic variability,neurological outcome and genetics background of 6-pyruvoil-tetrahydropterin synthase deficiency
No full textClin Genet. 2010 Mar;77(3):249-57. Epub 2009 Jan 3.
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.
Source
Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. [email protected]
Abstract
This study aimed to investigate the clinical variability and factors implied in the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6-pyruvoyl-tetrahydropterin synthase (PTS) genotype, were explored retrospectively in 19 Italian patients (12 males and 7 females, aged 4 months to 33 years). According to the level of biogenic amines in cerebrospinal fluid (CSF) at the diagnosis, the patients were classified as mild (6) (normal level) or severe (13) (abnormal low level) form (MF and SF, respectively). Blood Phe ranged from 151 to 1053 micromol/l in MF (mean +/- SD: 698 +/- 403) and 342-2120 micromol/l in SF (mean +/- SD: 1175 +/- 517) (p = 0.063). Patients with MF showed a normal neurological development (a transient dystonia was detected in one), while all SF patients except one presented with severe neurological impairment and only four had a normal neurological development. The outcome of the SF was influenced by the precocity of the treatment. Serial CSF examinations revealed a decline of 5-hydroxyindolacetic acid in MFs and an incomplete restoration of neurotransmitters in SFs: neither obviously affected the prognosis. PTS gene analysis detected 17 different mutations (seven so far unreported) (only one affected allele was identified in three subjects). A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd
Nuovo Caso Di Deficit Di Guanidinoacetato Metiltransferasi (Gamt) Diagnosticato Attraverso Un Programma Di Screening Mirato In Soggetti Sintomatici.
No full textThe treatment of guanidinoacetate methyltransferase (GAMT) deficiency: clinical and biochemical follow-up.
No full textEarly onset epilepsy, neurological deterioration and late onset parkinsonism:atypical clinical presentation of GTP cyclohydrolase (GTP-CH) deficiency.
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency presenting as inherited dopa-responsive myoclonus-dystonia syndrome
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