Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.

Autor: Klouwer FCC; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands. f.c.klouwer@amsterdamumc.nl., Roosendaal SD; Department of Radiology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Hollak CEM; Department of Endocrinology and Metabolism, and Amsterdam Gastroenterology Endocrinology and Metabolism research institute, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, and Amsterdam Gastroenterology Endocrinology and Metabolism research institute, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands., Sorge AJV; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Knaap MSV; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 23; Vol. 19 (1), pp. 350. Date of Electronic Publication: 2024 Sep 23.

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.

Autor: Verschoof MA; Department of Neurology, HagaZiekenhuis, The Hague, The Netherlands., van Meenen LCC; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Andriessen MVE; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Brinkman DMC; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Kamphuis S; Department of Pediatric Rheumatology, Sophia Children's Hospital, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Kuijpers TW; Department of Pediatric Immunology and Infectious Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center and Utrecht University, Utrecht, The Netherlands., Legger GE; Department of Pediatric Rheumatology and Immunology, University Groningen, University Medical Center Groningen, Groningen, The Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands., de Pagter APJ; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands., Rutgers A; Department of Rheumatology and Clinical Immunology, University Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Well GTJ; Division of Pediatric Infectious Diseases, Immunology & Rheumatology, Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands., Coutinho JM; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hak AE; Departments of Internal Medicine and Rheumatology and Clinical Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Klouwer FCC; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Jan; Vol. 31 (1), pp. e16043. Date of Electronic Publication: 2023 Aug 29.

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

Autor: Lee PY; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Davidson BA; Vanderbilt University, Nashville, Tennessee., Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio., Alter B; Center for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Arostegui JI; Hospital Clinic, Barcelona, Spain.; Institut d'Investigacions Biomediques August Pi I Sunyer, Barcelona, Spain., Bell K; DADA2 Foundation, Nashville, Tennessee., Belot A; National Reference Centre for Rare Rheumatic and Autoimmune Diseases in Children RAISE, Hospices Civils de Lyon, Lyon, France., Bergerson JRE; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland., Bernard TJ; Section of Child Neurology, Department of Pediatrics and Hemophilia and Thrombosis Center, University of Colorado School of Medicine, Aurora., Brogan PA; University College London, Great Ormond Street Institute of Child Health, London, UK., Berkun Y; Department of Pediatrics, Hadassah-Hebrew University Medical Center, Mount Scopus, and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Deuitch NT; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Dimitrova D; Center for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Georgin-Lavialle SA; Internal Medicine Department, Sorbonne University, Tenon Hospital, Paris, France., Gattorno M; Unit of Rheumatology and Autoinflammatory diseases, IRCCS Istituto G. Gaslini, Genova, Italy., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs University of Freiburg, Germany., Hashem H; Division of Pediatric Hematology Oncology and BMT, King Hussein Cancer Center, Amman, Jordan., Hershfield MS; Department of Medicine and Biochemistry, Duke University School of Medicine, Durham, North Carolina., Ichord RN; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Izawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kanakry JA; Center for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Khubchandani RP; SRCC Children's Hospital, Mumbai, India., Klouwer FCC; Department of Neurology and Pediatric Neurology, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Luton EA; DADA2 Foundation, Nashville, Tennessee., Man AW; Section of Rheumatology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada., Meyts I; Department of Pediatrics, University Hospitals Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Van Montfrans JM; Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, the Netherlands., Ozen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey., Saarela J; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Centre for Molecular Medicine Norway, University of Oslo, Oslo, Norway., Santo GC; Department of Neurology, Centro Hospitalar e Universitário de Coimbra, CNC-CIBB, Coimbra, Portugal., Sharma A; Clinical Immunology and Rheumatology Wing, Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Soldatos A; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Sparks R; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland., Torgerson TR; Allen Institute for Immunology and University of Washington, Seattle., Uriarte IL; Immunology Unit, Hospital Materno Infantil V. Tetamanti-Escuela Superior de Medicina, Universidad Nacional de Mar del Plata, Bs As, Argentina., Youngstein TAB; National Heart and Lung Institute, Imperial College London and Department of Rheumatology, Hammersmith Hospital, Imperial College NHS Healthcare Trust, London, United Kingdom., Zhou Q; Life Sciences Institute, Zhejiang University, Zhejiang, China., Aksentijevich I; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Kastner DL; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Chambers EP; Vanderbilt University, Nashville, Tennessee.; DADA2 Foundation, Nashville, Tennessee., Ombrello AK; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Publikováno v: JAMA network open [JAMA Netw Open] 2023 May 01; Vol. 6 (5), pp. e2315894. Date of Electronic Publication: 2023 May 01.

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.

Autor: Klouwer FCC; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Falkenberg KD; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Ofman R; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., van Gent D; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2021 Apr 01; Vol. 9, pp. 661298. Date of Electronic Publication: 2021 Apr 01 (Print Publication: 2021).

The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.

Autor: Klouwer FCC; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Koot BGP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Berendse K; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Kemper EM; Department of Pharmacy, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Koelfat KVK; Department of Surgery, Maastricht University, Maastricht, The Netherlands., Lenicek M; Department of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic., Vaz FM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Jansen PLM; Department of Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Schaap FG; Department of Surgery, Maastricht University, Maastricht, The Netherlands.; Department of General, Visceral and Transplantation Surgery, RWTH University Hospital Aachen, Aachen, Germany., Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Mar; Vol. 42 (2), pp. 303-312. Date of Electronic Publication: 2019 Feb 21.