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المؤلفون: McNutt MC; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jul 14; Vol. 39 (Suppl 1), pp. 101121. Date of Electronic Publication: 2024 Jul 14 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

المؤلفون: Sun JL; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Baylor University Medical Center, Dallas, Texas, USA., Chen L; Department of Pathology, Baylor University Medical Center, Dallas, Texas, USA., Ghazi A; Department of Pathology, Baylor University Medical Center, Dallas, Texas, USA., McNutt MC; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Mathai SK; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Baylor University Medical Center, Dallas, Texas, USA.; Center for Advanced Heart and Lung Disease, Baylor University Medical Center, Dallas, Texas, USA.; Texas A&M School of Medicine, Dallas, Texas, USA., Millard M; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Baylor University Medical Center, Dallas, Texas, USA.; Center for Advanced Heart and Lung Disease, Baylor University Medical Center, Dallas, Texas, USA.

المصدر: Proceedings (Baylor University. Medical Center) [Proc (Bayl Univ Med Cent)] 2024 Apr 08; Vol. 37 (4), pp. 662-665. Date of Electronic Publication: 2024 Apr 08 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Baylor Research Foundation Country of Publication: United States NLM ID: 9302033 Publication Model: eCollection Cited Medium: Print ISSN: 0899-8280 (Print) Linking ISSN: 08998280 NLM ISO Abbreviation: Proc (Bayl Univ Med Cent) Subsets: PubMed not MEDLINE

المؤلفون: Cai L, Vu HS, Gu W, Chen H, Franklin J, Haidar LA, Wu Z, Pan C, Cai F, Nguyen P, Ko B, Yang C, Zacharias LG, Sudderth J, Montgomery S, Uhles C, Fisher H, Hudnall J, Hornbuckle C, Quinn C, Michel D, Umaña L, Scheuerle A, McNutt MC, Gotway GK, Afroze B, Ni M, DeBerardinis R

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Dec 12. Date of Electronic Publication: 2023 Dec 12.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Abou Haidar L; Children's Medical Center Research Institute The University of Texas Southwestern Medical Center Dallas Texas USA.; Howard Hughes Medical Institute The University of Texas Southwestern Medical Center Dallas Texas USA., Pachnis P; Children's Medical Center Research Institute The University of Texas Southwestern Medical Center Dallas Texas USA.; Department of Pediatrics The University of Texas Southwestern Medical Center Dallas Texas USA., Gotway GK; Department of Pediatrics The University of Texas Southwestern Medical Center Dallas Texas USA.; Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas Texas USA.; Department of Internal Medicine The University of Texas Southwestern Medical Center Dallas Texas USA., Ni M; Children's Medical Center Research Institute The University of Texas Southwestern Medical Center Dallas Texas USA.; Department of Pediatrics The University of Texas Southwestern Medical Center Dallas Texas USA., DeBerardinis RJ; Children's Medical Center Research Institute The University of Texas Southwestern Medical Center Dallas Texas USA.; Howard Hughes Medical Institute The University of Texas Southwestern Medical Center Dallas Texas USA.; Department of Pediatrics The University of Texas Southwestern Medical Center Dallas Texas USA.; Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas Texas USA., McNutt MC; Department of Pediatrics The University of Texas Southwestern Medical Center Dallas Texas USA.; Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas Texas USA.; Department of Internal Medicine The University of Texas Southwestern Medical Center Dallas Texas USA.

المصدر: JIMD reports [JIMD Rep] 2023 Sep 07; Vol. 64 (6), pp. 403-409. Date of Electronic Publication: 2023 Sep 07 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: McNutt MC; UT Southwestern Medical Center Dallas Texas USA., Foreman N; RehabMetrics Colleyville Texas USA., Gotway G; UT Southwestern Medical Center Dallas Texas USA.

المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2022 Nov 22; Vol. 10 (1), pp. 109-114. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2023).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: eCollection Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: PubMed not MEDLINE

المؤلفون: Burton BK; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: bburton@luriechildrens.org., Hermida Á; Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Bélanger-Quintana A; Metabolic Diseases Unit, Department of Paediatrics, Ramon y Cajal Hospital, Madrid, Spain., Bell H; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada., Bjoraker KJ; 3:1 Neuropsychology Consultants, PLLC, Minneapolis, MN, USA., Christ SE; Department of Psychological Sciences, University of Missouri, Columbia, MO, USA., Grant ML; Department of Psychiatry, Drexel University College of Medicine, Philadelphia, PA, USA., Harding CO; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA., Huijbregts SCJ; Leiden Institute for Brain and Cognition, Leiden University, Leiden, the Netherlands., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., McNutt MC 2nd; McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, TX, USA., Nguyen-Driver MD; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA., Santos Pessoa AL; Pediatric Neurology Service, Albert Sabin Children's Hospital, University of Ceará State, Fortaleza, Ceará, Brazil., Rocha JC; Nutrition and Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Portugal; Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, VIC, Australia., Sacharow S; CINTESIS-Center for Health Technology and Services Research, NOVA Medical School, Lisboa, Portugal; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia., Sanchez-Valle A; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal., Sivri HS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Vockley J; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Walterfang M; Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, USA; Melbourne Neuropsychiatry Centre, Department of Psychiatry, University of Melbourne, Melbourne, VIC, Australia; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Whittle S; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey., Muntau AC; Department of Pediatrics, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2022 Sep-Oct; Vol. 137 (1-2), pp. 114-126. Date of Electronic Publication: 2022 Jul 29.

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

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: Phenylketonurias*/diagnosis, Child ; Adolescent ; Young Adult ; Humans ; Adult ; Consensus ; Mass Screening