Fertility and sexual activity in patients with Triple A syndrome.

Autor: Dumic KK; Department of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Heinrichs C; Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF) Paediatric Endocrinology Unit, Bruxelles, Belgium., Koehler K; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Huebner A; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Dumic M; Department of Paediatric Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Kusec V; Department of Laboratory Medicine, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Dusek T; Department of Endocrinology and Diabetes, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Quitter F; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Mar 13; Vol. 15, pp. 1357084. Date of Electronic Publication: 2024 Mar 13 (Print Publication: 2024).

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

Autor: Dohr KA; Research Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Tokic S; Research Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Gastager-Ehgartner M; Research Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Stojakovic T; Clinical Institute of Medical and Chemical Laboratory Diagnostics, University Hospital Graz, 8036 Graz, Austria., Dumic M; Department of Paediatric Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, 10000 Zagreb, Croatia., Plecko B; Division of General Paediatrics, Department of Paediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Dumic KK; Department of Paediatric Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, 10000 Zagreb, Croatia.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 22; Vol. 24 (6). Date of Electronic Publication: 2023 Mar 22.

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.

Autor: Dumic KK; Department of Pediatrics, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia. Electronic address: katja.dumic@gmail.com., Grubic Z; Tissue Typing Centre, Department of Transfusion Medicine and Transplantation Biology, Department of Laboratory Medicine, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia., Yuen T; Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine New York, NY, USA., Wilson RC; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA., Kusec V; Endocrinological Laboratory, Department of Laboratory Medicine, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia., Barisic I; Department of Medical Genetics, Department of Pediatrics, Children's Hospital Zagreb, University of Zagreb Medical School, Zagreb, Croatia., Stingl K; Tissue Typing Centre, Department of Transfusion Medicine and Transplantation Biology, Department of Laboratory Medicine, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia., Sansovic I; Department of Medical Genetics, Department of Pediatrics, Children's Hospital Zagreb, University of Zagreb Medical School, Zagreb, Croatia., Skrabic V; Department of Pediatrics, Clinical Hospital Centre Split, University of Split Medical School, Split, Croatia., Dumic M; University of Zagreb Medical School, Zagreb, Croatia., New MI; Steroid Disorders Program, Department of Pediatrics, Mount Sinai School of Medicine New York, NY, USA.

Publikováno v: The Journal of steroid biochemistry and molecular biology [J Steroid Biochem Mol Biol] 2017 Jan; Vol. 165 (Pt A), pp. 51-56. Date of Electronic Publication: 2016 Mar 31.