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[Trisomy of the short arm of chromosome 9]. / Trisomia krótkich ramion chromosomu 9.

Rogóyski, A; Babel, M; Holtorp-Tyszkiewiczowa, J.

Pediatr Pol ; 64(4): 248-52, 1989 Apr.

Article in Polish | MEDLINE | ID: mdl-2628892

Subject(s)

Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 9 , Trisomy , Abnormalities, Multiple/diagnosis , Adult , Chromosome Aberrations/diagnosis , Chromosome Disorders , Female , Humans , Infant , Karyotyping , Pedigree

[Wiskott-Aldrich syndrome in an infant with a family history of ulcerative colitis]. / Zespól wiskotta-aldricha u niemowlecia z objawami wystepujacego rodzinnie wrzodziejacego zapalenia jelita grubego.

Holtorp-Tyszkiewiczowa, J.

Pediatr Pol ; 64(3): 177-80, 1989 Mar.

Article in Polish | MEDLINE | ID: mdl-2602050

Subject(s)

Colitis, Ulcerative/genetics , Wiskott-Aldrich Syndrome/etiology , Family Health , Humans , Infant , Male

[Malignant histiocytosis with atypical course in a 16-year-old girl]. / Histiocytosis maligna o nietypowym przebiegu u 16-letniej dziewczynki.

Holtorp-Tyszkiewiczowa, J; Wierzbicka, D.

Pediatr Pol ; 60(7): 539-42, 1985 Jul.

Article in Polish | MEDLINE | ID: mdl-4094834

Subject(s)

Liver Neoplasms/pathology , Lymphatic Diseases/pathology , Neoplasms, Multiple Primary/pathology , Splenic Neoplasms/pathology , Adolescent , Female , Humans , Lymphatic Metastasis

[Congenital methemoglobinemia with central nervous system damage caused by generalized deficiency of NADH-dependent methemoglobin reductase in a 2-year-old Polish girl]. / Wrodzona methemoglobinemia z uszkodzeniem osrodkowego ukladu nerwowego na tle uogólnionego niedoboru reduktazy methemoglobiny NADH-zaleznej u 2-letniej polskiej dziewczynki.

Holtorp-Tyszkiewiczowa, J; Jablonska-Skwiecinska, E; Szmidt-Sidor, B; Wierzbicka, D.

Pediatr Pol ; 59(10): 865-70, 1984 Oct.

Article in Polish | MEDLINE | ID: mdl-6533561

Subject(s)

Brain Diseases, Metabolic/etiology , Brain/pathology , Cytochrome-B(5) Reductase/deficiency , Methemoglobinemia/congenital , NADH, NADPH Oxidoreductases/deficiency , Atrophy , Child, Preschool , Female , Humans , Methemoglobinemia/complications

Generalized deficiency of the NADH-methemoglobin reductase in congenital methemoglobinemia with neurological symptoms.

Jablonska-Skwiecinska, E; Holtorp-Tyszkiewiczowa, J; Staniszewska, K.

Biomed Biochim Acta ; 43(6): S98-100, 1984.

Article in English | MEDLINE | ID: mdl-6487287

ABSTRACT

Determination of the NADH-methemoglobin reductase (NADH-metHb-R) activity in red cells, lymphocytes and platelets of a two year old Polish girl with congenital methemoglobinemia and severe damage of the central nervous system, as well as in control subjects, was performed. The results permitted us to diagnose a rare case of the generalized deficiency of the NADH-metHb-R.

Subject(s)

Cytochrome-B(5) Reductase/deficiency , Intellectual Disability/enzymology , Methemoglobinemia/enzymology , NADH, NADPH Oxidoreductases/deficiency , Adult , Blood Platelets/enzymology , Child, Preschool , Erythrocytes/enzymology , Female , Humans , Lymphocytes/enzymology , Male , Methemoglobinemia/congenital

[Lymphonodal form of acquired toxoplasmosis in a 10-year-old boy]. / Wezlowa postac nabytaj toksoplazmozy u 10-letniego chlopca.

Holtorp-Tyszkiewiczowa, J; Wierzbicka, D; Wróblewska-Cieliszak, K.

Pediatr Pol ; 56(11-12): 1365-8, 1981.

Article in Polish | MEDLINE | ID: mdl-7339566

Subject(s)

Toxoplasmosis/diagnosis , Child , Humans , Lymph Nodes/pathology , Male , Toxoplasmosis/pathology

[Uralyt treatment of urate kidney calculi in an infant]. / Próba leczenia uralytem u kamicy moczanowej u niemowlecia.

Holtorp-Tyszkiewiczowa, J; Wróblewska-Cieliszak, K; Macialowicz, D.

Wiad Lek ; 32(13): 943-6, 1979 Jul 01.

Article in Polish | MEDLINE | ID: mdl-532155

Subject(s)

Citrates/administration & dosage , Kidney Calculi/drug therapy , Child , Drug Combinations , Humans , Kidney Calculi/diagnosis , Male , Uric Acid/metabolism

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