Search | VHL Regional Portal

1.

[Pilot experiment concerning the concomitant detection of congenital hypothyroidism and phenylketonuria in newborn infants in a high-risk geographical zone. (Results for the year 1979)]. / Experiment pilot privind depistarea concomitenta a hipotiroidismului congenital si fenilcetonuriei la nou-nascutii dintr-o zona geografica periclitata. Rezultate privind anul 1979.

Priscu, A R; Manolescu, E; Sichitiu, S; Iordachescu, F; Tomescu, E; Stamate, M; Ciurea, A; Poboran, V; Iacob, C; Bugariu, E; Milcu, M; Caniola, I; Gasparovici, L; Bucur, I; Stefanache, O; Georgescu, B G; Zaharescu, J; Opris, C C; Pältineau, V; Horincaru, N; Wirtz, A; Tertan, I; Szabo, I; Tamas, N.

Rev Pediatr Obstet Ginecol Pediatr ; 29(2): 131-8, 1980.

Article in Romanian | MEDLINE | ID: mdl-6776606

Subject(s)

Congenital Hypothyroidism , Infant, Newborn, Diseases , Phenylketonurias/epidemiology , Humans , Hypothyroidism/diagnosis , Hypothyroidism/epidemiology , Infant, Newborn , Italy , Phenylketonurias/diagnosis

2.

[Detection of phenylketonuria in newborns; comments on the 1st year of activity of the Institute for the Protection of the Mother and Child in Bucharest and Ialomita district]. / Depistarea fenilcetonuriei la nou-nascuti; consideratii privind primul an al actiunii intreprinse de I.O.M.C. in municipiul Bucuresti si judetul Ialomita.

Priscu, R; Popescu, V; Caniola, I; Milcu, M; Daneliuc, Z; Sichitiu, S.

Rev Pediatr Obstet Ginecol Pediatr ; 27(1): 15-8, 1978.

Article in Romanian | MEDLINE | ID: mdl-418473

Subject(s)

Infant, Newborn, Diseases/epidemiology , Phenylketonurias/epidemiology , Academies and Institutes , Child Health Services , Female , Humans , Infant, Newborn , Mass Screening , Maternal Health Services , Pregnancy , Romania

3.

[Renal tubular acidosis]. / Acidoza tubulara renala.

Popescu, V; Sichitiu, S; Cheta, D.

Rev Pediatr Obstet Ginecol Pediatr ; 26(2): 105-18, 1977.

Article in Romanian | MEDLINE | ID: mdl-406656

Subject(s)

Acidosis, Renal Tubular/genetics , Acidosis, Renal Tubular/complications , Acidosis, Renal Tubular/diagnosis , Child , Dwarfism/etiology , Humans , Hypocalcemia/etiology , Hyponatremia/etiology , Male , Pedigree , Polyuria/etiology

4.

[A case of pheochromocytoma]. / Consideratii asupra unui caz de feocromocitom

Georgescu, A; Sichitiu, S; Popescu, V; Dumitrache, M; Boiu, S.

Rev Pediatr Obstet Ginecol Pediatr ; 26(1): 31-6, 1977.

Article in Romanian | MEDLINE | ID: mdl-404685

Subject(s)

Adrenal Gland Neoplasms , Pheochromocytoma , Adolescent , Adrenal Gland Neoplasms/complications , Female , Humans , Hypertension/etiology , Norepinephrine/urine , Pheochromocytoma/complications , Pheochromocytoma/diagnosis , Seizures/etiology

5.

[Hypophosphatemic vitamin D resistant rickets. Therapeutic management]. / Rahitismul vitamino-D rezistent hipofosfatemic. Atitudine terapeutica

Priscu, R; Popescu, V; Sichitiu, S; Pesamosca, A; Balaban, I; Diaconu, T h; Orban, A.

Rev Pediatr Obstet Ginecol Pediatr ; 25(4): 361-72, 1976.

Article in Romanian | MEDLINE | ID: mdl-191885

Subject(s)

Hypophosphatemia, Familial/drug therapy , Phosphates/metabolism , Calcium/metabolism , Child , Female , Humans , Hypophosphatemia, Familial/metabolism , Phosphates/therapeutic use , Vitamin D/therapeutic use

6.

[Value of dietetic treatment in phenylketonuria after late detection]. / Valoarea tratamentului dietetic în fenilcetonuria depistata tardiv

Priscu, R; Popescu, V; Sichitiu, S; Stroia, V; Caniola, I; Ciofu, E; Diaconu, T; Vlasceanu, S; Milcu, M.

Rev Pediatr Obstet Ginecol Pediatr ; 25(1): 19-28, 1976.

Article in Romanian | MEDLINE | ID: mdl-821121

Subject(s)

Phenylketonurias/diet therapy , Age Factors , Child Development , Child, Preschool , Humans , Infant , Intellectual Disability/prevention & control , Motor Skills , Phenylketonurias/diagnosis , Psychological Tests

7.

[Detection of phenylketonuria with the Guthrie test in the Bucharest Child Neuropsychiatry Center]. / Depistarea fenilcetonuriei prin testul Guthrie la dispensarizatii Centrului de neuropsihiatrie infantila din Bucuresti

Popescu, V; Sichitiu, S; Cosma, E; Maescu, N; Milcu, M; Banu, C; Ferentzi, A; Cristoreanu, M.

Rev Pediatr Obstet Ginecol Pediatr ; 25(1): 3-12, 1976.

Article in Romanian | MEDLINE | ID: mdl-821123

Subject(s)

Phenylalanine/blood , Phenylketonurias/diagnosis , Biological Assay , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Romania

8.

[Congenital (Blackfan-Diamond) hypoplastic anemia. Considerations on a case followed-up for 6 years]. / Anemia hipoplastica congenitala (Blackfan-Diamond). Consideratii pe marginea unui caz observat timp de 6 ani

Popescu, V; Balan, A; Constantinescu, M; Sichitiu, S.

Rev Pediatr Obstet Ginecol Pediatr ; 24(4): 311-6, 1975.

Article in Romanian | MEDLINE | ID: mdl-814598

Subject(s)

Anemia, Aplastic/congenital , Anemia, Aplastic/drug therapy , Child , Child, Preschool , Female , Humans , Infant , Prednisone/therapeutic use

9.

Types of enzymatic overdosing in trisomy 21: erythrocytic superoxide dismutase-AJ and phosphoglucomutase.

Priscu, R; Sichitiu, S.

Humangenetik ; 29(1): 79-83, 1975 Aug 29.

Article in English | MEDLINE | ID: mdl-126209

ABSTRACT

A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equalt to 1.4. SOD-A supraactivation is the effect of a genic dose, as demonstrated in earlier works (Sichitiu, 1973; Sichitiu et al., 1974; Sinet et al., 1974), whereas PGM hyperactivity appears to be modified secondarily, the same as the activity of other cellular enzymes in Down's disease.

Subject(s)

Chromosomes, Human, 21-22 and Y , Down Syndrome/enzymology , Phosphoglucomutase/blood , Superoxide Dismutase/blood , Trisomy , Enzyme Activation , Erythrocytes/enzymology , Genes , Humans

10.

[Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)]. / Surdosage de la forme dimérique de l'indophénoloxydase dans la trisomie 21, secondaire au surdosage génique.

Sichitiu, S; Sinet, P M; Lejeune, J; Frézal, J.

Humangenetik ; 23(1): 65-72, 1974 Jun 26.

Article in French | MEDLINE | ID: mdl-4367880

Subject(s)

Down Syndrome/enzymology , Electron Transport Complex IV/metabolism , Genes , Adolescent , Adult , Child , Child, Preschool , Electrophoresis, Starch Gel , Female , Hemoglobins , Humans , Male , Molecular Biology , Statistics as Topic

11.

[Free amino-acids levels of cerebrospinal fluid in baby infants with Down's syndrome (author's transl)]. / Les taux des amino-acides libres dans le liquide cérébro-spinal chez les nourrissons trisomiques 21

Priscu, R; Moraru, I; Albu, A; Sichitiu, S.

Humangenetik ; 21(1): 63-8, 1974 Jan 22.

Article in French | MEDLINE | ID: mdl-4276064

Subject(s)

Amino Acids/cerebrospinal fluid , Down Syndrome/cerebrospinal fluid , Adult , Autoanalysis , Blood-Brain Barrier , Child , Female , Free Radicals , Humans , Infant , Male

12.

[Iatrogenic heart failure in a case of congenital hypoaldosteronism treated by subcutaneous DOCA implant]. / Iatrogenes Herzversagen bei einem durch subkutanes DOCA-Implantat behandelten Fall von kongenitalem Hypoaldosteronismus.

Priscu, R; Maiorescu, M; Sichitiu, S.

Klin Padiatr ; 184(5): 408-14, 1972 Sep.

Article in German | MEDLINE | ID: mdl-4673729

Subject(s)

Adrenal Insufficiency/congenital , Desoxycorticosterone/adverse effects , Heart Failure/chemically induced , Acid-Base Equilibrium , Adrenal Insufficiency/drug therapy , Aldosterone/blood , Anemia, Hypochromic/complications , Child, Preschool , Desoxycorticosterone/administration & dosage , Electrocardiography , Electrolytes/blood , Female , Humans , Hyperaldosteronism/chemically induced

13.

[Congenital spondyloepiphyseal dysplasia--an autosomal dominant hereditary skeletal dysplasia]. / Dysplasia spondyloepiphysaria congenita--eine autosomal dominant erbliche Skelettdysplasie.

Priscu, R; Balaban, I; Pantelie, C; Diaconu, T h; Sichitiu, S.

Arch Kinderheilkd ; 177(3): 306-15, 1968 Sep.

Article in German | MEDLINE | ID: mdl-4975486

Subject(s)

Mucopolysaccharidosis IV/genetics , Child , Elbow/diagnostic imaging , Female , Genes, Dominant , Humans , Karyotyping , Lymphocytes/analysis , Male , Mucopolysaccharidosis IV/blood , Mucopolysaccharidosis IV/diagnostic imaging , Pelvis/diagnostic imaging , Radiography , Spine/diagnostic imaging

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

ABSTRACT

Subject(s)

Subject(s)

Subject(s)

Subject(s)

Subject(s)

SEND TO:

SELECTION OF CITATIONS

SEARCH DETAIL