Heterogeneous Brain Atrophy Sites in Anxiety Disorders Map to a Common Brain Network.

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Update of the risk assessment of polybrominated diphenyl ethers (PBDEs) in food.

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Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Autor: Abdennadher M; Boston Medical Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Inati SK; Neurophysiology of Epilepsy Unit, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Rahhal S; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Khan O; Veterans Administration, Washington, District of Columbia, USA., Bartolini L; Hasbro Childrens' Hospital, Brown University, Providence, Rhode Island, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, NIMH, National Institutes of Health, Bethesda, Maryland, USA., Theodore W; Clinical Epilepsy Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA., Miller JS; Departments of Psychiatry and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA., Bianconi S; Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Rockville, Maryland, USA.; Clinical Genetics, Kaiser Permanente Medical Group of Southern California, La Palma, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 337-345. Date of Electronic Publication: 2023 Oct 18.

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

Autor: Cecil, Kim M., Salomons, Gajja S., Ball, William S., Wong, Brenda, Chuck, Gail, Verhoeven, Nanda M., Jakobs, Cornelis, DeGrauw, Ton J., Cecil, K M, Salomons, G S, Ball, W S Jr, Wong, B, Chuck, G, Verhoeven, N M, Jakobs, C, DeGrauw, T J

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