Biomedical subjects

P Giliberti

Publications and source records attributed to P Giliberti.

11 recordsLinked to original sources

PubMed1984

[Blood methylmalonic acid. Clinical findings in 2 sisters].

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Female↗

PubMed1981

[A case of metabolic encephalopathy caused by vitamin B 12-dependent methylmalonicoaciduria].

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Amino Acid Metabolism, Inborn Errors↗

PubMed1981

[A case of metabolic encephalopathy caused by vitamin B 12-dependent methylmalonicaciduria].

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Amino Acid Metabolism, Inborn Errors↗

PubMed1980

Antenatal detection of omphalocele by ultrasound.

A case of successful antenatal detection of omphalocele is reported. Ultrasonic evidence of an abdominal wall defect with an extruding mass, without other anomalies, suggested the diagnosis of omphalocele and allowed the patient to receive special treatment. Despite the severity of the omphalocele, the infant was saved by immediate surgery.

Adult↗

PubMed1980

Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter.

A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.

Chromosome Aberrations↗

PubMed1977