المؤلفون: Mengler K; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Garbade SF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Gleich F; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital., May P; Clinic for Gastroenterology, Hepatology and Infectious Diseases, University Hospital Düsseldorf, Medical Faculty of Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Lüsebrink N; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Marquardt T; Department of Pediatrics, University Hospital Muenster, Muenster, Germany., Hübner V; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, University of Ulm, Ulm, Germany., Neugebauer J; Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Gillitzer C; Children's Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Kamrath C; Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany., Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany., Näke A; Children's Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Murko S; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Schmidt S; Clinic for Internal Medicine III, Endocrinology and Metabolic Diseases, University Hospital Jena., Schnabel E; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Lommer-Steinhoff S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Hoffmann GF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Beime J; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Kölker S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Mütze U; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

المصدر: Pediatrics [Pediatrics] 2024 Aug 01; Vol. 154 (2).

نوع المنشور: Journal Article; Multicenter Study; Observational Study

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/diagnosis , Maple Syrup Urine Disease*/therapy , Neonatal Screening*/methods, Humans ; Infant, Newborn ; Male ; Female ; Prospective Studies ; Child ; Treatment Outcome ; Child, Preschool ; Leucine/blood ; Adolescent ; Infant

المؤلفون: Falah N; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Medicine, Johns Hopkins All Children's Hospital, St. Petersburg, Florida, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Sasannejad C; Duke Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA., Gibson A; Division of Critical Care, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA., Lee YL; Department of Medicine and Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63637. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Psychotic Disorders*/genetics , Psychotic Disorders*/pathology , Maple Syrup Urine Disease*/genetics , Maple Syrup Urine Disease*/complications, Humans ; Female ; Adult ; Fatal Outcome ; Leucine/blood

المؤلفون: Vasudevan AK; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Shanmugam N; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Rammohan A; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Balakrishnan U; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Menon J; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Iqbal MAUH; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Mohammed GMO; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Kaliamoorthy I; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India., Rela M; The Institute of Liver Disease and Transplantation, Dr. Rela Institute & Medical Centre, Bharath Institute of Higher Education & Research, Chennai, India.

المصدر: Pediatric transplantation [Pediatr Transplant] 2024 Sep; Vol. 28 (6), pp. e14845.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/surgery , Liver Transplantation* , Amino Acids*/metabolism , Homeostasis*, Humans ; Male ; Female ; Infant ; Child, Preschool ; Retrospective Studies ; Follow-Up Studies ; Child Development

المؤلفون: Alotaibi AZ; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11652, Saudi Arabia., AlMalki RH; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Al Mogren M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Sebaa R; Department of Medical Laboratories, College of Applied Medical Sciences, Shaqra University, Shaqra 11961, Saudi Arabia., Alanazi M; Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11652, Saudi Arabia., Jacob M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Alodaib A; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Alfares A; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 24; Vol. 25 (11). Date of Electronic Publication: 2024 May 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/blood , Maple Syrup Urine Disease*/diagnosis , Dried Blood Spot Testing*/methods , Biomarkers*/blood , Metabolomics*/methods , Neonatal Screening*/methods, Humans ; Infant, Newborn ; Male ; Female ; Metabolome ; Tandem Mass Spectrometry

المؤلفون: Saeyup P; Department of Anesthesiology, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Tubjaroen C; Division of Gastroenterology and Hepatology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Organ Transplantation, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Kamolvisit W; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center of Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Chongsrisawat V; Division of Gastroenterology and Hepatology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Organ Transplantation, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Thaveepunsan W; Department of Anesthesiology, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

المصدر: Paediatric anaesthesia [Paediatr Anaesth] 2024 Apr; Vol. 34 (4), pp. 366-370. Date of Electronic Publication: 2024 Feb 05.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Arnette-Blackwell Country of Publication: France NLM ID: 9206575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-9592 (Electronic) Linking ISSN: 11555645 NLM ISO Abbreviation: Paediatr Anaesth Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/metabolism , Maple Syrup Urine Disease*/surgery , Liver Transplantation*, Infant ; Child ; Humans ; Female ; Amino Acids, Branched-Chain/metabolism ; Living Donors

المؤلفون: Hassona Y; Oral Medicine and Special Care Dentistry Faculty of Dentistry, Centre for Oral Diseases Studies (CODS), Al-Ahliyya Amman University, Amman, Jordan. y.hassona@ammanu.edu.jo.; School of Dentistry, The University of Jordan, Amman, Jordan. y.hassona@ammanu.edu.jo., Alqaisi D; School of Dentistry, The University of Jordan, Amman, Jordan., Flaifl Y; School of Dentistry, The University of Jordan, Amman, Jordan., Alkilani A; School of Medicine, The University of Jordan, Amman, Jordan.

المصدر: BMC oral health [BMC Oral Health] 2024 Mar 21; Vol. 24 (1), pp. 362. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Systematic Review; Review; Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health

مواضيع طبية MeSH: Maple Syrup Urine Disease*/complications , Maple Syrup Urine Disease*/diet therapy , Maple Syrup Urine Disease*/therapy , Phenotype*, Humans ; Male ; Child, Preschool ; Dental Caries/therapy ; Dental Caries/complications ; Gingivitis/therapy ; Gingivitis/etiology

المؤلفون: Lemos IDS; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Torres CA; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Alano CG; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Matiola RT; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., de Figueiredo Seldenreich R; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Padilha APZ; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Psiquiatria Translacional, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., De Pieri E; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Fisiopatologia Experimental, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Effting PS; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Machado-De-Ávila RA; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Fisiopatologia Experimental, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Réus GZ; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Psiquiatria Translacional, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil., Leipnitz G; Programa de Pós-graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil.; Programa de Pós-graduação em Ciências Biológicas: Fisiologia, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil., Streck EL; Programa de Pós-graduação em Ciências da Saúde, Laboratório de Doenças Neurometabólicas, Universidade do Extremo Sul Catarinense, Criciúma, SC, 88806-000, Brazil. emiliostreck@gmail.com.

المصدر: Neurochemical research [Neurochem Res] 2024 Mar; Vol. 49 (3), pp. 758-770. Date of Electronic Publication: 2023 Dec 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 7613461 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-6903 (Electronic) Linking ISSN: 03643190 NLM ISO Abbreviation: Neurochem Res Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/drug therapy , Maple Syrup Urine Disease*/metabolism, Rats ; Animals ; Memantine/pharmacology ; Memantine/therapeutic use ; Acetylcholinesterase ; Disease Models, Animal ; Amino Acids, Branched-Chain ; Antioxidants/pharmacology ; Inflammation

المؤلفون: Busiah K; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; Paediatric endocrinology, diabetology and obesity unit, Women-Mothers-Children Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland. Electronic address: kanetee.busiah@chuv.ch., Roda C; Université Paris Cité, HERA Team, CRESS, INSERM, INRAE, F-75004 Paris, France., Crosnier AS; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France., Brassier A; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Servais A; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Wicker C; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; Pediatric Inherited Metabolic Diseases department, University Hospital of Strasbourg- Hautepierre, Strasbourg, France., Dubois S; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Assoun M; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Belloche C; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Ottolenghi C; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France., Pontoizeau C; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France., Souberbielle JC; Hormonology laboratory, Physiology department, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Piketty ML; Hormonology laboratory, Physiology department, Necker-Enfants Malades Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Perin L; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France., Le Bouc Y; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France; Sorbonne University, INSERM, Saint Antoine research centre, Assistance Publique-Hôpitaux de Paris, Paris, France., Arnoux JB; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France., Netchine I; Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France; Sorbonne University, INSERM, Saint Antoine research centre, Assistance Publique-Hôpitaux de Paris, Paris, France., Imbard A; Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France., de Lonlay P; Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France; INSERM U1151, Necker-Enfants Malades Institute (INEM), Paris, France.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108123. Date of Electronic Publication: 2024 Jan 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/genetics , Maple Syrup Urine Disease*, Infant, Newborn ; Humans ; Longitudinal Studies ; Retrospective Studies ; Isoleucine ; Growth Disorders ; Amino Acids ; Body Height

المؤلفون: Doshi HP; Department of Intensive Care Services, Westmead Hospital, Sydney, Australia., Vachharajani HH; Department of Intensive Care Services, Westmead Hospital, Sydney, Australia., Tchan MC; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Nasreddine MA; Department of Radiology, Westmead Hospital, Sydney, Australia., Billmore KE; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.

المصدر: Anaesthesia and intensive care [Anaesth Intensive Care] 2024 Jan; Vol. 52 (1), pp. 64-68. Date of Electronic Publication: 2023 Nov 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: SAGE Publications Country of Publication: United States NLM ID: 0342017 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0310-057X (Print) Linking ISSN: 0310057X NLM ISO Abbreviation: Anaesth Intensive Care Subsets: MEDLINE

مواضيع طبية MeSH: Brain Edema*/complications , Brain Edema*/pathology , Maple Syrup Urine Disease*/complications , Maple Syrup Urine Disease*/diagnosis , Maple Syrup Urine Disease*/metabolism, Female ; Humans ; Young Adult ; Brain ; Magnetic Resonance Imaging ; Rare Diseases/complications ; Rare Diseases/pathology

المؤلفون: Pontoizeau C; Necker Hospital, APHP, Biochemistry, Metabolomics Unit, University Paris Cité, Paris, France.; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., Gaborit C; Inserm UMR_S1163, Institut Imagine, Paris, France., Tual N; Inserm UMR_S1163, Institut Imagine, Paris, France., Simon-Sola M; Inserm UMR_S1163, Institut Imagine, Paris, France., Rotaru I; Inserm UMR_S1163, Institut Imagine, Paris, France., Benoist M; Inserm UMR_S1163, Institut Imagine, Paris, France., Colella P; Généthon INTEGRARE UMR-S951, University of Evry, Evry, France., Lamazière A; CRSA, St Antoine Hospital, Paris, France., Brassier A; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France., Arnoux JB; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France., Rötig A; Inserm UMR_S1163, Institut Imagine, Paris, France., Ottolenghi C; Necker Hospital, APHP, Biochemistry, Metabolomics Unit, University Paris Cité, Paris, France.; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France., de Lonlay P; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm U1151, Institut Necker Enfants Malades, Paris, France., Mingozzi F; Généthon INTEGRARE UMR-S951, University of Evry, Evry, France., Cavazzana M; Inserm UMR_S1163, Institut Imagine, Paris, France.; Necker Hospital, APHP, Biotherapies Department and Clinical Investigation Center, Inserm, University Paris Cité, Paris, France., Schiff M; Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jan; Vol. 47 (1), pp. 41-49. Date of Electronic Publication: 2023 Mar 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Maple Syrup Urine Disease*/genetics , Maple Syrup Urine Disease*/therapy , Maple Syrup Urine Disease*/diagnosis, Animals ; Humans ; Mice ; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/chemistry ; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/metabolism ; Amino Acids, Branched-Chain/metabolism ; Phenotype ; Quality of Life