Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Autor: Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia

RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterina RM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterina MRI; Inherited neurotransmitter disorders; Monoamines; T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b877cab74f11584455ed19abfed64f8
https://pubmed.ncbi.nlm.nih.gov/33443316

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Autor: Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina

Publikováno v: Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

BackgroundTetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4biosynthesis or recycl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0605a6e02a35c8c305cd624486cf4ef

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Autor: Julia-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Kuseyri Hübschmann O; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic, Spain., Pons R; First Department of Pediatrics, Aghia Sofia Hospital, University of Athens, Athens, Greece., Horvath G; Division of Biochemical Genetics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Lücke T; St. Josef-Hospital, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany., Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong., Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong., Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain., Rovira-Remisa MM; Unit of Inherited Metabolic Diseases and Child Neurology, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Mercimek-Andrews S; The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, Faculty of Medicine and Dentistry, Women and Children's Health Research Institute, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada., Assmann B; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia., Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università degli Studi di Roma La Sapienza, Rome, Italy., Brennenstuhl H; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Institute of Human Genetics, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Jung-Klawitter S; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Jeltsch K; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Garbade SF; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., García-Cazorla À; Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Opladen T; Center for Pediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 447-462. Date of Electronic Publication: 2024 Mar 18.

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report.

Autor: Erdal İ; Department of Pediatrics, Division of Pediatric Metabolism, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Yıldız Y; Department of Pediatrics, Division of Pediatric Metabolism, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Önal G; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Aktepe OH; Department of Medical Oncology, Division of Internal Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Düzgün SA; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Sağlam A; Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Emre SD; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Sivri HS; Department of Pediatrics, Division of Pediatric Metabolism, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Publikováno v: Endocrine, metabolic & immune disorders drug targets [Endocr Metab Immune Disord Drug Targets] 2023; Vol. 23 (2), pp. 230-234.

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients

Autor: Akar HT; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Yıldız Y; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Güvenkaya G; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Çıkı K; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Kahraman AB; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Erdal İ; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Coşkun T; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Dursun A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Sivri HS; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Tokatlı A; Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey

Publikováno v: Balkan medical journal [Balkan Med J] 2022 Sep 09; Vol. 39 (5), pp. 345-350. Date of Electronic Publication: 2022 Aug 15.