Works matching DE "AMINO acid metabolism disorders"

Results: 600

Glutaric Aciduria Type 1: An Atypical Presentation.

Published in:

2022

By:

Simalti, Ashish;
Goswami, Jyotindra;
Simalti, Ashish K;
Goswami, Jyotindra N

Publication type:

Case Study

A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205

By:

Michael Krawczak;
Johannes Zschocke

Publication type:

Article

Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre.

Published in:

Osteoporosis International, 2021, v. 32, n. 5, p. 927, doi. 10.1007/s00198-020-05671-y

By:

Ranganath, L. R.;
Khedr, M.;
Vinjamuri, S.;
Gallagher, J. A.

Publication type:

Article

Problem in analyzing cystine stones using FTIR spectroscopy.

Published in:

Urological Research, 2009, v. 37, n. 5, p. 263, doi. 10.1007/s00240-009-0207-3

By:

Marickar, Y. M. Fazil;
Lekshmi, P. R.;
Varma, Luxmi;
Koshy, Peter

Publication type:

Article

The impact of new technology in the treatment of cystine stones.

Published in:

Urological Research, 2007, v. 35, n. 3, p. 129, doi. 10.1007/s00240-007-0089-1

By:

Trinchieri, Alberto;
Montanari, Emanuele;
Zanetti, Giampaolo;
Lizzano, Renata

Publication type:

Article

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.

Published in:

Urological Research, 2006, v. 34, n. 5, p. 299, doi. 10.1007/s00240-006-0060-6

By:

Chatzikyriakidou, Anthoula;
Sofikitis, Nikolaos;
Kalfakakou, Vasiliki;
Siamopoulos, Konstantinos;
Georgiou, Ioannis

Publication type:

Article

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 783, doi. 10.1007/s00414-015-1311-2

By:

Hartung, Benno;
Temme, Oliver;
Neuen-Jacob, Eva;
Ritz-Timme, Stefanie;
Hinderhofer, Katrin;
Daldrup, Thomas

Publication type:

Article

Plasma asymmetric and symmetric dimethylarginine in a rat model of endothelial dysfunction induced by acute hyperhomocysteinemia.

Published in:

Amino Acids, 2015, v. 47, n. 9, p. 1975, doi. 10.1007/s00726-015-1959-4

By:

Magné, Joëlle;
Huneau, Jean-François;
Borderie, Didier;
Mathé, Véronique;
Bos, Cécile;
Mariotti, François

Publication type:

Article

Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.

Published in:

Amino Acids, 2013, v. 45, n. 6, p. 1331, doi. 10.1007/s00726-013-1609-7

By:

Pey, Angel L.

Publication type:

Article

ENFERMEDAD DE LA ORINA CON OLOR A JARABE DE ARCE: REPORTE DE DOS CASOS.

Published in:

Peruvian Journal of Maternal Perinatal Research / Revista Peruana de Investigación Materno Perinatal, 2024, v. 13, n. 2, p. 39, doi. 10.33421/inmp.2024391

By:

Mendoza Jamanca, Wendy Lizeth;
Rosa Dávila-Aliaga, Carmen;
Medina-Alva, Pilar;
Alvarado Merino, Rosa

Publication type:

Article

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 82, doi. 10.3390/ijns10040082

By:

Kuypers, Allysa M.;
Bouva, Marelle J.;
Loeber, J. Gerard;
Boelen, Anita;
Dekkers, Eugenie;
Petritis, Konstantinos;
Pickens, C. Austin;
van Spronsen, Francjan J.;
Heiner-Fokkema, M. Rebecca

Publication type:

Article

Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 83, doi. 10.3390/ijns10040083

By:

Zaunseder, Elaine;
Teinert, Julian;
Boy, Nikolas;
Garbade, Sven F.;
Haupt, Saskia;
Feyh, Patrik;
Hoffmann, Georg F.;
Kölker, Stefan;
Mütze, Ulrike;
Heuveline, Vincent

Publication type:

Article

Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9 , 66".

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 66, doi. 10.3390/ijns10040066

By:

Dijkstra, Allysa M.;
Evers-van Vliet, Kimber;
Heiner-Fokkema, M. Rebecca;
Bodewes, Frank A. J. A.;
Bos, Dennis K.;
Zsiros, József;
van Aerde, Koen J.;
Koop, Klaas;
van Spronsen, Francjan J.;
Lubout, Charlotte M. A.

Publication type:

Article

Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9 , 66.

Published in:

2024

By:

Bouva, Marelle J.;
Maase, Rose E.;
van Elburg, Ruurd M.

Publication type:

Letter

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 59, doi. 10.3390/ijns10030059

By:

Cavan, Barbra Charina V.;
de Castro-Hamoy, Leniza G.;
Abarquez, Conchita G.;
Maceda, Ebner Bon G.;
Alcausin, Maria Melanie Liberty B.

Publication type:

Article

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 28, doi. 10.3390/ijns10020028

By:

Tang, Chengfang;
Li, Lixin;
Chen, Ting;
Li, Yulin;
Zhu, Bo;
Zhang, Yinhong;
Yin, Yifan;
Liu, Xiulian;
Huang, Cidan;
Miao, Jingkun;
Zhu, Baosheng;
Wang, Xiaohua;
Zou, Hui;
Han, Lianshu;
Feng, Jizhen;
Huang, Yonglan

Publication type:

Article

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 24, doi. 10.3390/ijns10010024

By:

Carling, Rachel S.;
Hedgethorne, Katy;
Chakrapani, Anupam;
Hall, Patricia L.;
Flynn, Nick;
Greenfield, Toby;
Moat, Stuart J.;
Ssali, Joshua;
Shakespeare, Lynette;
Taj, Nazia;
Wu, Teresa H. Y.;
Anderson, Mark;
Ghosh, Arunabha;
Lemonde, Hugh;
Pierre, Germaine;
Sharrard, Mark;
Sreekantam, Sreevidya;
Bonham, James R.

Publication type:

Article

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 66, doi. 10.3390/ijns9040066

By:

Dijkstra, Allysa M.;
Evers-van Vliet, Kimber;
Heiner-Fokkema, M. Rebecca;
Bodewes, Frank A. J. A.;
Bos, Dennis K.;
Zsiros, József;
van Aerde, Koen J.;
Koop, Klaas;
van Spronsen, Francjan J.;
Lubout, Charlotte M. A.

Publication type:

Article

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 3, doi. 10.3390/ijns9010003

By:

Tangeraas, Trine;
Ljungblad, Ulf W.;
Lutvica, Elma;
Kristensen, Erle;
Rowe, Alex D.;
Bjørke-Monsen, Anne-Lise;
Rootwelt-Revheim, Terje;
Sæves, Ingjerd;
Pettersen, Rolf D.

Publication type:

Article

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030042

By:

Omari, Amel;
Reeves, Sarah L.;
Prosser, Lisa A.;
Creary, Melissa S.;
Ahmad, Ayesha;
Chua, Kao-Ping

Publication type:

Article

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7 , 32.

Published in:

2022

By:

Spenger, Johannes;
Maier, Esther M.;
Wechselberger, Katharina;
Bauder, Florian;
Kocher, Melanie;
Sperl, Wolfgang;
Preisel, Martin;
Schiergens, Katharina A.;
Konstantopoulou, Vassiliki;
Röschinger, Wulf;
Häberle, Johannes;
Schmitt-Mechelke, Thomas;
Wortmann, Saskia B.;
Fingerhut, Ralph

Publication type:

Correction Notice

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 13, doi. 10.3390/ijns8010013

By:

Held, Patrice K.;
Singh, Emily;
Scott Schwoerer, Jessica

Publication type:

Article

NIH scientists develop breath test for methylmalonic acidemia.

Published in:: Medical Laboratory Observer (MLO), 2021, v. 53, n. 5, p. 7
Publication type:: Article

Medical Nutrition Therapy and Intestinal Microbiota in Phenylketonuria.

Published in:

Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2024, n. 24, p. 1347, doi. 10.38079/igusabder.1425111

By:

DOĞANAY, Derya;
OLGUN, Sevde Nur

Publication type:

Article

Ipsilateral hip and knee joints ochronotic arthropathy treated by total joint replacement, a case report.

Published in:

Bulletin of the National Research Centre, 2022, v. 46, n. 1, p. 1, doi. 10.1186/s42269-022-00764-6

By:

Khalifa, Ahmed A.;
Moustafa, Mohamed M. A.;
Bakr, Hatem;
Abdelaal, Ahmed M.

Publication type:

Article

GENETIC LANDSCAPE OF PHENYLKETONURIA IN SERBIA.

Published in:

Genetics & Applications, 2024, p. 41

By:

Kristel, Klaassen;
Sara, Stanković;
Maja, Đorđević Milošević;
Božica, Kecman;
Marina, Andjelkovic;
Anita, Skakić;
Vesna, Spasovski;
Milena, Ugrin;
Jovana, Komazec;
Marina, Parezanović;
Nikola, Jocić;
Nina, Stevanović;
Sonja, Pavlovic;
Maja, Stojiljković

Publication type:

Article

Phenylketonuria.

Published in:

Journal of Continuing Education Topics & Issues, 2007, v. 9, n. 1, p. 8

By:

Wright, Kerri;
Roberts, George H.

Publication type:

Article

OrphanAnesthesia - ein krankheitsübergreifendes Projekt des Wissenschaftlichen Arbeitskreises Kinderanästhesie der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V.

Published in:

Anaesthesiologie & Intensivmedizin, 2025, v. 66, n. 4, p. 1

By:

Münster, Tino

Publication type:

Article

Methylmalonic acidemia (or aciduria).

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S159, doi. 10.19224/ai2022.S159

By:

Lee, Clover-Ann

Publication type:

Article

Metabolomics Reveals the Allelopathic Potential of the Invasive Plant Eupatorium adenophorum.

Published in:

Plants (2223-7747), 2021, v. 10, n. 7, p. 1473, doi. 10.3390/plants10071473

By:

Zhu, Xunzhi;
Yi, Yangmin;
Huang, Ling;
Zhang, Chi;
Shao, Hua

Publication type:

Article

Relationship Between Perceived Social Support and Distress Tolerance in Parents with Phenylketonuria Children: Mediating Role of Self-compassion.

Published in:

Iranian Journal of Psychiatry & Behavioral Sciences / Progress in Psychiatry & Behavioral Sciences, 2023, v. 17, n. 4, p. 1, doi. 10.5812/ijpbs-135963

By:

Habibi, Narges;
Basharpoor, Sajjad;
Fathi, Elham;
Atadokht, Akbar

Publication type:

Article

Study on the Common Molecular Mechanism of Metabolic Acidosis and Myocardial Damage Complicated by Neonatal Pneumonia.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 11, p. 1118, doi. 10.3390/metabo13111118

By:

Zhan, Yifei;
Wang, Huaiyan;
Wu, Zeying;
Zeng, Zhongda

Publication type:

Article

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 6, p. 527, doi. 10.3390/metabo12060527

By:

Lee, Namgyu;
Kim, Dohoon

Publication type:

Article

1 H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 12, p. 891, doi. 10.3390/metabo11120891

By:

Pulido, Ninna;
Guevara-Morales, Johana M.;
Rodriguez-López, Alexander;
Pulido, Álvaro;
Díaz, Jhon;
Edrada-Ebel, Ru Angelie;
Echeverri-Peña, Olga Y.

Publication type:

Article

The Impact of Nutrition, Physical Activity, Beneficial Microbes, and Fecal Microbiota Transplant for Improving Health.

Published in:

Life (2075-1729), 2023, v. 13, n. 5, p. 1124, doi. 10.3390/life13051124

By:

Keathley, Justine;
White, Jessica;
Reid, Gregor

Publication type:

Article

Molecular pathology report of late-onset propionic acidemia in adults: one case report and literature review.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 4, p. 289, doi. 10.3969/j.issn.1672-6731.2021.04.010

By:

XUE Xiu-yun;
DONG Ya-ru;
WANG Jun;
YOU Feng-qiu;
DI Zheng-li;
LIU Zhi-qin

Publication type:

Article

The clinical and genetical heterogeneity of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 6, p. 23, doi. 10.3969/j.issn.1672-6731.2020.06.009

By:

SUN Yi-ming;
CAO Ji-qing;
LI Jing;
LI Huan;
ZHANG Cheng

Publication type:

Article

Clinical phenotype and gene mutation of short-chain acyl-coenzyme A dehydrogenase deficiency in a Chinese family.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 589, doi. 10.3969/j.issn.1672-6731.2018.08.006

By:

JI Xin-na;
MAO Ying-ying;
GAO Zhi-jie;
TAN Bo-jing;
LI Yun-lin;
XU Ke-ming;
CHEN Qian;
CHEN Shu-hua

Publication type:

Article

Editorial: Effects of pathogen parasitism on host metabolism in aquaculture animals.

Published in:

Frontiers in Cellular & Infection Microbiology, 2024, p. 1, doi. 10.3389/fcimb.2024.1467352

By:

Rongrong Ma;
Lei Liu;
Alrowais, Raid;
Ya-Xiong Tao;
Yibin Yang;
Renyuan Li

Publication type:

Article

Potential treatment of glutathione in bullfrogs with abnormal hepatic lipid metabolism revealed by hepatic lipid metabolism and serum metabolomics analysis.

Published in:

Frontiers in Cellular & Infection Microbiology, 2024, p. 1, doi. 10.3389/fcimb.2024.1426340

By:

Zehui Su;
Fu Gao;
Rui Shu;
Kai Cai;
Shugaung Fang;
Xiaoting Lei;
Dan Li;
Kun Hu

Publication type:

Article

The use of a low phenylalanine diet in response to the challenging behaviour of a man with untreated phenylketonuria and profound learning disabilities.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 6, p. 520, doi. 10.1111/j.1365-2788.1995.tb00572.x

By:

Harvey, E.L.;
Kirk, S.F.

Publication type:

Article

Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 365, doi. 10.1111/j.1365-2788.1995.tb00540.x

By:

Griffiths, P.;
Paterson, L.;
Harvie, A.

Publication type:

Article

Outcomes of kidney transplantation in patients with lysinuric protein intolerance.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 1, p. 1, doi. 10.1093/ckj/sfae373

By:

Rautanen, Tomi;
Ahopelto, Kaisa;
Niinikoski, Harri;
Karppinen, Sinikka;
Lempinen, Marko;
Ortiz, Fernanda;
Helanterä, Ilkka

Publication type:

Article

The potential to breed a low-protein maize for protein-restricted diets.

Published in:

Crop Science, 2021, v. 61, n. 6, p. 4202, doi. 10.1002/csc2.20600

By:

Woore, Matthew S.;
Flint-Garcia, Sherry A.;
Holland, James B.

Publication type:

Article

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.

Published in:

2019

By:

Janeiro, Patrícia;
Jotta, Rita;
Ramos, Ruben;
Florindo, Cristina;
Ventura, Fátima V.;
Vilarinho, Laura;
Tavares de Almeida, Isabel;
Gaspar, Ana

Publication type:

journal article

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Published in:

2016

By:

Vester, Marloes;
Visser, Gepke;
Wijburg, Frits;
Spronsen, Francjan;
Williams, Monique;
Rijn, Rick;
Vester, Marloes E M;
Wijburg, Frits A;
van Spronsen, Francjan J;
van Rijn, Rick R

Publication type:

journal article

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

Published in:

2016

By:

Giżewska, Maria;
MacDonald, Anita;
Bélanger-Quintana, Amaya;
Burlina, Alberto;
Cleary, Maureen;
Coşkun, Turgay;
Feillet, François;
Muntau, Ania;
Trefz, Friedrich;
Spronsen, Francjan;
Blau, Nenad;
Giżewska, Maria;
Bélanger-Quintana, Amaya;
Coşkun, Turgay;
Feillet, François;
Muntau, Ania C;
Trefz, Friedrich K;
van Spronsen, Francjan J

Publication type:

journal article

Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended.

Published in:

2011

By:

D'Eufemia, Patrizia;
Celli, Mauro;
Tetti, Martina;
Finocchiaro, Roberto

Publication type:

Letter

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.

Published in:

2011

By:

Kasapkara, Cigdem Seher;
Ezgu, Fatih Suheyl;
Okur, Ilyas;
Tumer, Leyla;
Biberoglu, Gursel;
Hasanoglu, Alev

Publication type:

journal article

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Published in:

2007

By:

Jakubiczka, Sibylle;
Bettecken, Thomas;
Mohnike, Klaus;
Schneppenheim, Reinhard;
Stumm, Markus;
Tönnies, Holger;
Volleth, Marianne;
Wieacker, Peter;
Tönnies, Holger

Publication type:

journal article