|1.||Fekete, Robert: 1 article (01/2014)|
|2.||Rodrigues, Mecciene Mendes: 1 article (11/2013)|
|3.||Caldas, Amadeus Lima Rocha: 1 article (11/2013)|
|1.||Xeroderma Pigmentosum (Kaposi's Disease)
11/01/2013 - "The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported. "
08/01/1990 - "The pathology of the peripheral nervous system (PNS) in 2 autopsied cases of group A xeroderma pigmentosum (De Sanctis Cacchione syndrome) are presented. "
02/01/1976 - "Similar experiments were performed with fibroblasts derived from five patients with the classical xeroderma pigmentosum (XP) and from one patient with the De Sanctis-Cacchione syndrome. "
09/01/1972 - "This repair process has been observed in normal human fibroblasts, HeLa cells, and fibroblasts derived from three types of xeroderma pigmentosum patients-uncomplicated with respect to neurological problems, complicated (de Sanctis-Cacchione syndrome), and one with the clinical symptoms of xeroderma pigmentosum but with normal repair replication. "
06/01/1970 - "[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)]."
|2.||Neurologic Manifestations (Neurological Manifestations)
01/01/1985 - "Neurological manifestations were associated with nine patients, including 3 with typical de Sanctis-Cacchione syndrome (DSC), and most of the cells derived from these patients had a UDS level less than 10% of that of the normal cells. "
09/01/1978 - "Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome)."
07/01/1978 - "[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurologic manifestations) (author's transl)]."
09/01/1978 - "Computed tomography (CT) scans in two young patients with xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome) showed ventricular dilatation and cerebral cortical atrophy. "
|3.||Mental Retardation (Idiocy)
|4.||Hypogonadism (Hypergonadotropic Hypogonadism)
01/01/2014 - "Severe neurological symptoms including mental retardation, short stature, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS). "
11/01/2013 - "The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. "
07/12/1978 - "In lymphocytes with trisomy 21, in fibroblasts of 45,X;47,XXX;49,XXXXY; and 49,XXXXX chromosomal constitution, and in fibroblasts from a patient with xeroderma pigmentosum (De Sanctis-Cacchione syndrome), the rate of DNA replication does not differ from that in normal cells, varying in a single fork from 0.2 to 1.0 micrometer/min with a mean of about 0.6 micrometer/min. In fibroblasts with trisomy 7 the rate of DNA replication is greater, varying from 0.3 to 1.2 micrometer/min with a mean of about 0.8 micrometer/min. The sizes of replication units in all cells examined are from 80 to 500 micrometer with a mean of about 200-300 micrometer."
|2.||Glucosephosphate Dehydrogenase (Glucose 6 Phosphate Dehydrogenase)
|3.||DNA (Deoxyribonucleic Acid)