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- [34] Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyMOLECULAR GENETICS AND METABOLISM, 2024, 142 (01)Latzer, Itay Tokatly论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA Tel Aviv Univ, Fac Med & Hlth Sci, Sch Med, Tel Aviv, Israel Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USABertoldi, Mariarita论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USABlau, Nenad论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Metab, Zurich, Switzerland Univ Childrens Hosp Zurich, Childrens Res Ctr, Zurich, Switzerland Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USADiBacco, Melissa L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAElsea, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAGarcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Inst Recerca, Neurol Dept, Neurometab Unit, Barcelona, Spain Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAGibson, K. Michael论文数: 0 引用数: 0 h-index: 0机构: Washington State Univ, Coll Pharm & Pharmaceut Sci, Dept Pharmacotherapy, Spokane, WA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAGropman, Andrea L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Neurogenet & Neurodev Disabil, Washington, DC USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAHanson, Ellen论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Harvard Med Sch, Human Neurobehav Core, Boston, MA 02115 USA Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAHoffman, Carolyn论文数: 0 引用数: 0 h-index: 0机构: SSADH Assoc, Delafield, WI 53018 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAJeltsch, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac Heidelberg, Ctr Pediat & Adolescent Med, Dept 1,Div Pediat Neurol & Metab Med, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAJulia-Palacios, Natalia论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAKnerr, Ina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland, Natl Ctr Inherited Metab Disorders, Temple St, Dublin, Ireland Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USALee, Henry H. C.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Rosamund Stone Zander Translat Neurosci Ctr, Boston, MA 02115 USA Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAMalaspina, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Tor Vergata Univ, Dept Biol, Via Ric Sci Snc, I-00133 Rome, Italy Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAMcConnell, Alice论文数: 0 引用数: 0 h-index: 0机构: SSADH Assoc, Delafield, WI 53018 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAOpladen, Thomas论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Med Fac Heidelberg, Ctr Pediat & Adolescent Med, Dept 1,Div Pediat Neurol & Metab Med, Heidelberg, Germany Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAOppeboen, Mari论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Oslo, Norway Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USARotenberg, Alexander论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA Boston Childrens Hosp, FM Kirby Neurobiol Ctr, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAWalterfang, Mark论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Neuropsychiat, Melbourne, Australia Univ Melbourne, Dept Psychiat, Melbourne, Vic, Australia Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Edith Cowan Univ, Dept Hlth & Med Sci, Perth, WA, Australia Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAWang-Tso, Lee论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Translat Metab Lab, Nijmegen, Netherlands Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USARoullet, Jean-Baptiste论文数: 0 引用数: 0 h-index: 0机构: Washington State Univ, Coll Pharm & Pharmaceut Sci, Dept Pharmacotherapy, Spokane, WA USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USAPearl, Phillip L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA
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- [38] Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiencyNEUROLOGY, 2007, 68 (16) : 1320 - 1321Leuzzi, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyDi Sabato, M. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyDeodato, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyRizzo, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyBoenzi, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyCarducci, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyMalaspina, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyLiberanome, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, ItalyDionisi-Vici, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00185 Rome, Italy
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- [40] Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosisFRONTIERS IN GENETICS, 2024, 15Glinton, Kevin E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAGijavanekar, Charul论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USARajagopal, Abbhirami论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAMackay, Laura P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Univ Texas Southwestern Med Ctr, Dept Pediat, Dallas, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAMartin, Kirt A.论文数: 0 引用数: 0 h-index: 0机构: NeoGen Labs, Aliso Viejo, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAPearl, Phillip L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Boston, MA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAGibson, K. Michael论文数: 0 引用数: 0 h-index: 0机构: Washington State Univ, Coll Pharm & Pharmaceut Sci, Dept Pharmacotherapy, Spokane, WA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAWilson, Theresa A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USAElsea, Sarah H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Baylor Genet Labs, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA