Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Autor: Sen K; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, The George Washington School of Medicine, Washington, DC, USA., Izem R; Center for Translational Sciences, Children's National Hospital, The George Washington University, Washington, DC, USA.; Children's National Hospital, Washington, DC, USA., Long Y; Columbia University Mailman School of Public Health, New York, New York, USA., Jiang J; Center for Translational Sciences, Children's National Hospital, The George Washington University, Washington, DC, USA.; Children's National Hospital, Washington, DC, USA., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA., McCarter RJ; Center for Translational Sciences, Children's National Hospital, The George Washington University, Washington, DC, USA.; Children's National Hospital, Washington, DC, USA., Gropman AL; Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Hospital, The George Washington School of Medicine, Washington, DC, USA.; Center for Translational Sciences, Children's National Hospital, The George Washington University, Washington, DC, USA., Bedoyan JK; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2443.

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Autor: Pennisi A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Rötig A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Roux CJ; Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France., Lévy R; Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France., Henneke M; Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany., Gärtner J; Department of Paediatrics and Adolescent Medicine, Germany, University Medical Centre Göttingen, Georg August University Göttingen, Göttingen, Germany., Teke Kisa P; Pediatric Metabolism and Nutrition, Dokuz Eylül University, Izmir, Turkey., Sarioglu FC; Pediatric Radiology, Dokuz Eylül University, Izmir, Turkey., Yiş U; Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA., Burkardt DD; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wu S; Department of Genetics, Case Western Reserve University, Cleveland, OH, USA.; Department of Internal Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Gaignard P; Bicêtre Hospital, APHP, Department of Biochemistry, Bicêtre, France., Besmond C; Inserm UMR_S1163, Institut Imagine, Paris, France., Hubert L; Inserm UMR_S1163, Institut Imagine, Paris, France., Rio M; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France., Barcia G; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France., Munnich A; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Boddaert N; Inserm UMR_S1163, Institut Imagine, Paris, France.; Necker Hospital, APHP, Pediatric Radiology Department, University of Paris, Paris, France., Schiff M; Necker Hospital, APHP, Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, University of Paris, Paris, France manuel.schiff@aphp.fr.; Inserm UMR_S1163, Institut Imagine, Paris, France.; Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, Institut Imagine, University of Paris, Paris, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Feb; Vol. 59 (2), pp. 204-208. Date of Electronic Publication: 2020 Nov 16.

Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.

Autor: Waisbren S; Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Burton BK; Ann & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Feigenbaum A; The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH, USA., Lilienstein J; BioMarin Pharmaceutical Inc., Novato, CA, USA., McCandless SE; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO, USA., Rowell R; BioMarin Pharmaceutical Inc., Novato, CA, USA., Sanchez-Valle A; Division of Genetics and Metabolism, University of South Florida, Tampa, FL, USA., Whitehall KB; BioMarin Pharmaceutical Inc., Novato, CA, USA., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. Electronic address: nicola.longo@hsc.utah.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2021 Feb; Vol. 132 (2), pp. 119-127. Date of Electronic Publication: 2021 Jan 13.

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

Autor: Hannah WB; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.; Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America., Dempsey KJ; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Schillaci LP; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Zacharias M; Section of Heart Failure and Heart Transplantation, Division of Cardiovascular Medicine, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America., McCandless SE; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.; Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO, United States of America., Wynshaw-Boris A; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Konczal LL; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America., Bedoyan JK; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, United States of America.; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States of America.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Nov 06; Vol. 21, pp. 100537. Date of Electronic Publication: 2019 Nov 06 (Print Publication: 2019).

Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.

Autor: van der Plas, Pleun P.J.M., van Heesch, Gwen G.M., Koudstaal, Maarten J., Pullens, Bas, Mathijssen, Irene M.J., Bernard, Simone E., Wolvius, Eppo B., Joosten, Koen F.M.

Publikováno v: Cleft Palate Craniofacial Journal; Jan2025, Vol. 62 Issue 1, p51-62, 12p