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Authors :
Kirby T; Department of Pharmacotherapy, Health Sciences Building Room 210C, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA.; Walters DC
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Amino Acids/Amino Acids/Amino Acids/*metabolism ; Brain/Brain/Brain/*metabolism succinic semialdehyde dehydrogenase deficiency
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Source:
Metabolic brain disease [Metab Brain Dis] 2020 Apr; Vol. 35 (4), pp. 601-614. Date of Electronic Publication: 2020 Mar 14.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Ostojic SM; a Applied Bioenergetics Lab, Faculty of Sport and PE , University of Novi Sad , Lovcenska 16, Novi Sad 21000 , Serbia.; b University of Belgrade School of Medicine , Belgrade , Serbia.
Subjects: Amidinotransferases/Amidinotransferases/Amidinotransferases/*deficiency ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diet therapy ; Creatine/Creatine/Creatine/*metabolism Arginine-Glycine Amidinotransferase Deficiency
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Nutritional neuroscience [Nutr Neurosci] 2019 May; Vol. 22 (5), pp. 302-305. Date of Electronic Publication: 2017 Oct 03.Publisher: Taylor & Francis Country of Publication: England NLM ID: 100892202 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), CIBERER, Santiago de Compostela, Spain.; Aldamiz-Echevarría L
Subjects: Genetic Association Studies* ; Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis Acidemia, isovaleric
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Source:
Journal of human genetics [J Hum Genet] 2017 Mar; Vol. 62 (3), pp. 355-360. Date of Electronic Publication: 2016 Dec 01.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Balestrino M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Mother and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy. .; IRCCS Ospedale Policlinico San Martino, Genoa, Italy. .
Subjects: Amidinotransferases/Amidinotransferases/Amidinotransferases/*deficiency ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Creatine/Creatine/Creatine/*deficiency Arginine-Glycine Amidinotransferase Deficiency; Guanidinoacetate methyltransferase deficiency
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Source:
Amino acids [Amino Acids] 2020 Apr; Vol. 52 (4), pp. 667-669. Date of Electronic Publication: 2020 Mar 14.Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9200312 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Jensen M; University Heart and Vascular Centre Hamburg, Clinic for Cardiology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.; Department of Neurology, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany.
Subjects: Amidinotransferases/Amidinotransferases/Amidinotransferases/*deficiency ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Arginine/Arginine/Arginine/*metabolism Arginine-Glycine Amidinotransferase Deficiency
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Source:
International journal of molecular sciences [Int J Mol Sci] 2020 Mar 09; Vol. 21 (5). Date of Electronic Publication: 2020 Mar 09.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067
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Authors :
Vanslambrouck JM; Gene and Stem Cell Therapy Programme, Centenary Institute, Missenden Road, Camperdown, New South Wales 2050, Australia.; Bröer A
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/Amino Acid Transport Systems, Neutral/*metabolism ; Glycine/Glycine/Glycine/*metabolism
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Source:
The Biochemical journal [Biochem J] 2010 May 27; Vol. 428 (3), pp. 397-407. Date of Electronic Publication: 2010 May 27.Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Electronic
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Authors :
Prasad C; Division of Genetics, Children's Hospital, Boston, Massachusetts, USA. ; Nurko S
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*enzymology ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*therapy ; Gastrointestinal Motility/Gastrointestinal Motility/Gastrointestinal Motility/*physiology
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The Journal of pediatrics [J Pediatr] 2004 Apr; Vol. 144 (4), pp. 532-5.Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print Cited Medium: Print ISSN: 0022-3476 (Print)
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