المؤلفون: Wang X; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Li XY; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.; Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China., Piao Y; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.; Department of Pathology, Xuanwu Hospital of Capital Medical University, Beijing, China., Yuan G; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Lin Y; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Chen H; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Wang Z; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Li C; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China., Wang C; Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 237-242. Date of Electronic Publication: 2021 Aug 30.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

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: Hartnup Disease* , Spastic Paraplegia, Hereditary*/diagnosis , Spastic Paraplegia, Hereditary*/genetics, Humans ; Magnetic Resonance Imaging ; Mutation ; Pedigree ; Phenotype

المؤلفون: Nisoli E; Department of Biomedical Technology and Translational Medicine, Center for Study and Research on Obesity, University of Milan, Milan, 20129, Italy. enzo.nisoli@unimi.it., Cinti S; Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy., Valerio A; Department of Molecular and Translational Medicine, University of Brescia, Brescia, 25123, Italy. alessandra.valerio@unibs.it.

المصدر: Eating and weight disorders : EWD [Eat Weight Disord] 2021 Jun; Vol. 26 (5), pp. 1647-1651. Date of Electronic Publication: 2020 Jul 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 9707113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-1262 (Electronic) Linking ISSN: 11244909 NLM ISO Abbreviation: Eat Weight Disord Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acids/*administration & dosage , COVID-19/*complications , Gastrointestinal Diseases/*etiology , Hartnup Disease/*metabolism, Angiotensin-Converting Enzyme 2 ; COVID-19/epidemiology ; Gastrointestinal Absorption ; Hartnup Disease/complications ; Humans ; Intestine, Small/physiology ; Pandemics ; SARS-CoV-2 ; Spike Glycoprotein, Coronavirus

المؤلفون: da Silva IDCG; Departament of Gynecology, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil. ismael.dale2@gmail.com., de Castro Levatti EV; Department of Clinical and Experimental Oncology, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil., Pedroso AP; Departament of Physiology, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil., Marchioni DML; Nutrition Department, School of Public Health, University of São Paulo (MUSP), São Paulo, Brazil., Carioca AAF; Nutrition Department, School of Public Health, University of São Paulo (MUSP), São Paulo, Brazil.; Nutrition Department, University of Fortaleza (UNIFOR), Fortaleza, Brazil., Colleoni GWB; Department of Clinical and Experimental Oncology, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil. gcolleoni@unifesp.br.

المصدر: Scientific reports [Sci Rep] 2020 Dec 14; Vol. 10 (1), pp. 21836. Date of Electronic Publication: 2020 Dec 14.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Hartnup Disease*/diagnosis , Hartnup Disease*/metabolism , Hartnup Disease*/pathology , Multiple Myeloma*/diagnosis , Multiple Myeloma*/metabolism , Multiple Myeloma*/pathology, Electron Transport Complex I/*metabolism , Electron Transport Complex II/*metabolism , Neoplasm Proteins/*metabolism, Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging

المؤلفون: Pillai NR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Yubero D; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain., Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Oyarzábal A; Laboratory of Synaptic Metabolism, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain., Ghosh R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas., Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Arjona C; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain., Brandi N; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain., Palau F; Department of Genetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, and Institute of Medicine and Dermatology, Hospital Clínic, Barcelona, Spain., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Artuch R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain., García-Cazorla A; Laboratory of Synaptic Metabolism, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain.; Neurometabolic Unit, Department of Neurology, Institut de Recerca, Sant Joan de Déu metabERN and CIBERER (ISCIII), Hospital Sant Joan de Déu, Barcelona, Spain., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Dec; Vol. 179 (12), pp. 2459-2468. Date of Electronic Publication: 2019 Sep 13.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

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: Gene Deletion* , Loss of Function Mutation* , Phenotype*, Hartnup Disease/*diagnosis , Hartnup Disease/*genetics , Membrane Glycoproteins/*genetics , Mental Disorders/*diagnosis , Mental Disorders/*genetics, Alleles ; Amino Acid Substitution ; Animals ; Child ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mice ; Young Adult

المؤلفون: Orbak Z; Department of Pediatric Endocrinology and Metabolism, Ataturk University, Erzurum, Turkey. zerrinobak@yahoo.com, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M

المصدر: Journal of health, population, and nutrition [J Health Popul Nutr] 2010 Aug; Vol. 28 (4), pp. 413-5.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMedCentral Country of Publication: Bangladesh NLM ID: 100959228 Publication Model: Print Cited Medium: Print ISSN: 1606-0997 (Print) Linking ISSN: 16060997 NLM ISO Abbreviation: J Health Popul Nutr Subsets: MEDLINE

مواضيع طبية MeSH: Hartnup Disease/*complications , Hartnup Disease/*diagnosis , Kwashiorkor/*complications, Acrodermatitis/complications ; Amino Acids, Neutral/urine ; Buttocks/pathology ; Diagnosis, Differential ; Fatal Outcome ; Female ; Hartnup Disease/urine ; Humans ; Indican/urine ; Infant ; Kwashiorkor/urine ; Perineum/pathology ; Turkey

المؤلفون: Cheon CK; Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea., Lee BH, Ko JM, Kim HJ, Yoo HW

المصدر: Pediatric neurology [Pediatr Neurol] 2010 May; Vol. 42 (5), pp. 369-71.

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

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral/*genetics , Hartnup Disease/*complications , Hartnup Disease/*genetics , Mutation/*genetics , Seizures/*etiology , Seizures/*genetics, Base Sequence ; Child ; Hartnup Disease/diagnosis ; Humans ; Male ; Molecular Sequence Data ; Seizures/diagnosis

المؤلفون: Sander CS; Department of Dermatology, Tawam Hospital in affiliation with Johns Hopkins Medicine, Al Ain, UAE. csander@tawam-hosp.gov.ae, Hertecant J, Abdulrazzaq YM, Berger TG

المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2009 Mar; Vol. 34 (2), pp. 178-82. Date of Electronic Publication: 2008 Nov 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Celiac Disease*/complications , Celiac Disease*/diet therapy , Celiac Disease*/pathology , Child Nutrition Disorders*/complications , Child Nutrition Disorders*/diet therapy , Erythema*/diet therapy , Erythema*/etiology , Erythema*/pathology , Hartnup Disease*/complications , Hartnup Disease*/diet therapy , Hartnup Disease*/pathology, Glutens/*adverse effects, Alopecia/complications ; Child, Preschool ; Diet, Gluten-Free ; Female ; Glossitis/complications ; Humans ; Parents/education ; Skin/pathology ; Treatment Outcome ; Vitamins/administration & dosage

المؤلفون: Seyhan ME; Department of Dermatology, Inönü University, Malatya, Faculty of Medicine, Atatürk University, Erzurum, Turkey., Selimoğlu MA, Ertekin V, Fidanoğlu O, Altinkaynak S

المصدر: Pediatric dermatology [Pediatr Dermatol] 2006 May-Jun; Vol. 23 (3), pp. 262-5.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print Cited Medium: Print ISSN: 0736-8046 (Print) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Acrodermatitis/*etiology , Acrodermatitis/*pathology , Hartnup Disease/*complications , Hartnup Disease/*diagnosis, Acrodermatitis/therapy ; Child, Preschool ; Female ; Hartnup Disease/therapy ; Humans

المؤلفون: Ohura T; Department of Pediatrics, Tohoku University, Graduate School of Medicine.

المصدر: Nihon rinsho. Japanese journal of clinical medicine [Nihon Rinsho] 2006 Feb; Vol. 64 Suppl 2, pp. 541-4.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Nippon Rinsho Co Country of Publication: Japan NLM ID: 0420546 Publication Model: Print Cited Medium: Print ISSN: 0047-1852 (Print) Linking ISSN: 00471852 NLM ISO Abbreviation: Nihon Rinsho Subsets: MEDLINE

مواضيع طبية MeSH: Hartnup Disease*/genetics , Hartnup Disease*/physiopathology , Hartnup Disease*/therapy, Amino Acid Transport Systems, Neutral/*genetics, Amino Acid Transport Systems, Neutral/physiology ; Child ; Cloning, Molecular ; Genotype ; Humans ; Infant ; Infant, Newborn ; Mutation ; Niacinamide/administration & dosage ; Phenotype ; Serotonin/deficiency ; Tryptophan/deficiency

المؤلفون: Kraut JA; Membrane Biology Laboratory, Medical and Research Services, VAGLA Healthcare System and UCLA School of Medicine, Los Angeles, CA 90073, USA., Sachs G

المصدر: Trends in pharmacological sciences [Trends Pharmacol Sci] 2005 Feb; Vol. 26 (2), pp. 53-5.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Published By Elsevier In Association With The International Union Of Pharmacology Country of Publication: England NLM ID: 7906158 Publication Model: Print Cited Medium: Print ISSN: 0165-6147 (Print) Linking ISSN: 01656147 NLM ISO Abbreviation: Trends Pharmacol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Hartnup Disease/*genetics , Hartnup Disease/*physiopathology, Amino Acid Sequence/genetics ; Amino Acid Transport Systems, Neutral/genetics ; Amino Acid Transport Systems, Neutral/metabolism ; Hartnup Disease/metabolism ; Humans ; Molecular Sequence Data ; Point Mutation/genetics