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62 results for Amino+Acid+Metabolism,+Inborn+Errors+-+physiopathology

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ArticlesPeer ReviewedFull Text
Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with...
Author / Creator:Hwu, Wuh-Liang ; Lee, Hui-Min ; Peipert, John Devin ; Zhang, Rongrong ; Werner, Christian ; Sierra, J Rafael ; O'Connell, Thomas ; Woolley, Jonathan J ; Crowell, Marjorie ; Wang, Antonia ; Tomazos, Ioannis
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.58-9
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y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance
Author / Creator:Rotoli, Bianca Maria ; Barilli, Amelia ; Visigalli, Rossana ; Ferrari, Francesca ; Dall’Asta, Valeria
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2020-01, Vol.24 (1), p.921-929
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Hyperprolinemic larvae of the drosophilid fly, Chymomyza costata, survive cryopreservation in liquid nitrogen
Author / Creator:Kostál, Vladimír ; Zahradnícková, Helena ; Simek, Petr
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-08, Vol.108 (32), p.13041-13046
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Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings
Author / Creator:Yang, Linfeng ; Guo, Bin ; Li, Xue ; Liu, Xiangyu ; Wei, Xinhong ; Guo, Lingfei
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-08, Vol.10 (1), p.13099-13099, Article 13099
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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Author / Creator:Chu, Tzu-Hung ; Chien, Yin-Hsiu ; Lin, Hsiang-Yu ; Liao, Hsuan-Chieh ; Ho, Huey-Jane ; Lai, Chih-Jou ; Chiang, Chuan-Chi ; Lin, Niang-Cheng ; Yang, Chia-Feng ; Hwu, Wuh-Liang ; Lee, Ni-Chung ; Lin, Shuan-Pei ; Liu, Chin-Su ; Hu, Rey-Heng ; Ho, Ming-Chih ; Niu, Dau-Ming
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.73-73, Article 73
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Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
Author / Creator:Kölker, Stefan
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1055
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The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China
Author / Creator:Wen, Yongxin ; Wang, Jiaping ; Zhang, Qingping ; Chen, Yan ; Bao, Xinhua
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-09, Vol.65 (9), p.759-769
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γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1
Author / Creator:Darin, Niklas ; Leckström, Karin ; Sikora, Per ; Lindgren, Julia ; Almén, Gabriella ; Asin-Cayuela, Jorge
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.808-817
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Cystathionine γ-lyase deficiency enhances airway reactivity and viral-induced disease in mice exposed to side-stream tobacco smoke
Author / Creator:Ivanciuc, Teodora ; Sbrana, Elena ; Casola, Antonella ; Garofalo, Roberto P.
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2019-07, Vol.86 (1), p.39-46
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Author / Creator:Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya ; Lee, Henry H. C. ; Bertoldi, Mariarita ; McGinty, Gabrielle E. ; DiBacco, Melissa L. ; Arning, Erland ; Tsuboyama, Melissa ; Rotenberg, Alexander ; Opladen, Thomas ; Jeltsch, Kathrin ; García-Cazorla, Àngels ; Juliá-Palacios, Natalia ; Gibson, K. Michael ; Sahin, Mustafa ; Pearl, Phillip L.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.21-15, Article 21
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Phenotypic and Genotypic Characteristics of Adult‐Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review
Author / Creator:Wei, Luhua ; Li, Jieyu ; Xie, Zhiying ; Zhu, Ying ; Chen, Jing ; Zhao, Yawen ; Yuan, Yun ; Huang, Yining ; Yang, Yanling ; Wang, Zhaoxia ; Chen, Jing
Publisher:United States: John Wiley & Sons, Inc
Journal title:Brain and behavior, 2025-02, Vol.15 (2), p.e70281-n/a
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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
Author / Creator:Carrillo-Carrasco, Nuria ; Venditti, Charles P.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.103-114
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Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias
Author / Creator:Francini-Pesenti, Francesco ; Gugelmo, Giorgia ; Lenzini, Livia ; Vitturi, Nicola
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2020-10, Vol.12 (11), p.3331
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Succinic Semialdehyde Dehydrogenase Deficiency: An Update
Author / Creator:Didiasova, Miroslava ; Banning, Antje ; Brennenstuhl, Heiko ; Jung-Klawitter, Sabine ; Cinquemani, Claudio ; Opladen, Thomas ; Tikkanen, Ritva
Publisher:Switzerland: MDPI
Journal title:Cells (Basel, Switzerland), 2020-02, Vol.9 (2), p.477
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ArticlesPeer ReviewedFull Text
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
Author / Creator:Castells, Alba-Aina ; Gueraldi, Daniela ; Balada, Rafel ; Tristán-Noguero, Alba ; Cortès-Saladelafont, Elisenda ; Ramos, Federico ; Meavilla, Silvia ; De Los Santos, Mariela ; Garcia-Volpe, Camila ; Colomé, Roser ; Couce, Maria Luz ; Sierra, Cristina ; Ormazábal, Aida ; Batllori, Marta ; Artuch, Rafael ; Armstrong, Judith ; Alcántara, Soledad ; Garcia-Cazorla, Àngels
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-06, Vol.9 (1), p.9128-14, Article 9128
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ArticlesPeer ReviewedFull Text
Hypertryptasemia and Mast Cell-Related Disorders in Severe Osteoporotic Patients
Author / Creator:Passeri, Elena ; Grifoni, Federica ; Longhi, Matteo ; Guabello, Gregorio ; Carosi, Giulia ; Corbetta, Sabrina
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Mediators of inflammation, 2020, Vol.2020 (2020), p.1-8
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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia
Author / Creator:Atkuri, Kondala R ; Cowan, Tina M ; Kwan, Tony ; Ng, Angelina ; Herzenberg, Leonard A ; Herzenberg, Leonore A ; Enns, Gregory M
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (10), p.3941-3945
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Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations
Author / Creator:Liu, Yi ; Kang, Lulu ; Li, Dongxiao ; Jin, Ying ; Song, Jinqing ; Li, Haixia ; Wang, Junjuan ; Yang, Yanling
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-04, Vol.64 (4), p.305-312
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Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
Author / Creator:Lee, Ni-Chung ; Muramatsu, Shin-Ichi ; Chien, Yin-Hsiu ; Liu, Wen-Shin ; Wang, Wei-Hua ; Cheng, Chia-Hao ; Hu, Meng-Kai ; Chen, Pin-Wen ; Tzen, Kai-Yuan ; Byrne, Barry J ; Hwu, Wuh-Liang
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2015-10, Vol.23 (10), p.1572-1581
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Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene
Author / Creator:Habibzadeh, Parham ; Tabatabaei, Zahra ; Farazi Fard, Mohammad Ali ; Jamali, Laila ; Hafizi, Aazam ; Nikuei, Pooneh ; Salarian, Leila ; Nasr Esfahani, Mohammad Hossein ; Anvar, Zahra ; Faghihi, Mohammad Ali
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-02, Vol.21 (1), p.22-22, Article 22
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Showing 1 to 20 of 62 results

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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with...

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y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance

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Hyperprolinemic larvae of the drosophilid fly, Chymomyza costata, survive cryopreservation in liquid nitrogen

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Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings

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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

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Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases

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The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China

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γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1

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Cystathionine γ-lyase deficiency enhances airway reactivity and viral-induced disease in mice exposed to side-stream tobacco smoke

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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

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Phenotypic and Genotypic Characteristics of Adult‐Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

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Nutrient Intake and Nutritional Status in Adult Patients with Inherited Metabolic Diseases Treated with Low-Protein Diets: A Review on Urea Cycle Disorders and Branched Chain Organic Acidemias

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Succinic Semialdehyde Dehydrogenase Deficiency: An Update

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Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

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Hypertryptasemia and Mast Cell-Related Disorders in Severe Osteoporotic Patients

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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

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Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations

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Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

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Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

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