Works matching DE "INBORN errors of carbohydrate metabolism"

Results: 248

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Porcù, Elena;
Stornaiuolo, Maria;
Miglioranza, Paolo;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 11, doi. 10.3390/ijns9010011

By:

Dorley, M. Christine;
Dizikes, George J.;
Pickens, Charles Austin;
Cuthbert, Carla;
Basheeruddin, Khaja;
Gulamali-Majid, Fizza;
Hetterich, Paul;
Hietala, Amy;
Kelsey, Ashley;
Klug, Tracy;
Lesko, Barbara;
Mills, Michelle;
Moloney, Shawn;
Neogi, Partha;
Orsini, Joseph;
Singer, Douglas;
Petritis, Konstantinos

Publication type:

Article

Newborn Screening Is on a Collision Course with Public Health Ethics.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 51, doi. 10.3390/ijns8040051

By:

Currier, Robert J.

Publication type:

Article

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 61, doi. 10.3390/ijns8040061

By:

Jalal, Kabir;
Carter, Randy L.;
Barczykowski, Amy;
Tomatsu, Shunji;
Langan, Thomas J.

Publication type:

Article

A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030043

By:

Crossen, Kaylee;
Berry, Lisa;
Myers, Melanie F.;
Leslie, Nancy;
Goueli, Cecilia

Publication type:

Article

Glucose-6-phosphate dehydrogenase deficiency induced haemolysis in a woman with newly diagnosed diabetes after normalisation of hyperglycaemia.

Published in:

Diabetic Medicine, 2017, v. 34, n. 9, p. 1318, doi. 10.1111/dme.13385

By:

ALjishi, F.;
ALDarwish, M.

Publication type:

Article

Glycogen storage disease type VI: clinical course and molecular background.

Published in:

2020

By:

Aeppli, Tim RJ;
Rymen, Daisy;
Allegri, Gabriella;
Bode, Peter K;
Häberle, Johannes

Publication type:

journal article

Skeletal and cardiac muscle involvement in children with glycogen storage disease type III.

Published in:

2015

By:

Mogahed, Engy;
Girgis, Marian;
Sobhy, Rodina;
Elhabashy, Hala;
Abdelaziz, Osama;
El-Karaksy, Hanaa;
Mogahed, Engy A;
Girgis, Marian Y;
Abdelaziz, Osama M

Publication type:

journal article

A young boy with diffuse hyperpigmentation and delayed puberty.

Published in:

2011

By:

Xian-Ling Wang;
Yi-Ming Mu;
Jing-Tao Dou;
Zhao-Hui Lü;
Bao-An Wang;
Ju-Ming Lu;
Chang-Yu Pan;
Wang, Xian-Ling;
Mu, Yi-Ming;
Dou, Jing-Tao;
Lü, Zhao-Hui;
Wang, Bao-An;
Lu, Ju-Ming;
Pan, Chang-Yu

Publication type:

journal article

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Published in:

2009

By:

Faiyaz-Ul-Haque, Muhammad;
Al-Owain, Mohammed;
Al-Dayel, Fouad;
Al-Hassnan, Zuhair;
Al-Zaidan, Hamad;
Rahbeeni, Zuhair;
Al-Sayed, Moeen;
Balobaid, Ameera;
Cluntun, Ahmad;
Toulimat, Mohamed;
Abalkhail, Hala;
Peltekova, Iskra;
Zaidi, Syed H. E.

Publication type:

journal article

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.

Published in:

2009

By:

Melis, D.;
Casa, R. Della;
Parini, R.;
Rigoldi, M.;
Cacciapuoti, C.;
Marcolongo, P.;
Benedetti, A.;
Gaudieri, V.;
Andria, G.;
Parenti, G.;
Della Casa, R

Publication type:

journal article

Severe hemolysis and methemoglobinemia following fava beans ingestion in glucose-6-phosphatase dehydrogenase deficiency: case report and literature review.

Published in:

2009

By:

Schuurman, Marijn;
Van Waardenburg, Dick;
Da Costa, Joost;
Niemarkt, Hendrik;
Leroy, Piet

Publication type:

journal article

Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.

Published in:

2007

By:

Nagasaka, Hironori;
Hirano, Ken-ichi;
Ohtake, Akira;
Miida, Takashi;
Takatani, Tomozumi;
Murayama, Kei;
Yorifuji, Tohru;
Kobayashi, Kunihiko;
Kanazawa, Masaki;
Ogawa, Atsushi;
Takayanagi, Masaki

Publication type:

journal article

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Published in:

2007

By:

Hoeksma, Marieke;
Boon, Maartje;
Niezen-Koning, Klary E.;
Van Overbeek-Van Gils, Lidy;
Van Spronsen, Francjan J.

Publication type:

journal article

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.

Published in:

2006

By:

Albahri, Ziad;
Marklová, Eliška;
Dědek, Petr;
Hojdíková, Helena;
Fiedler, Zdeněk;
Lefeber, Dirk;
Wevers, Ron A;
Morava, Eva;
Wopereis, Suzan;
Marklová, Eliska;
Dedek, Petr;
Hojdíková, Helena;
Fiedler, Zdenek

Publication type:

journal article

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Published in:

2005

By:

Melis, Daniela;
Fulceri, Rossella;
Parenti, Giancarlo;
Marcolongo, Paola;
Gatti, Rosanna;
Parini, Rossella;
Riva, Enrica;
Della Casa, Roberto;
Zammarchi, Enrico;
Andria, Generoso;
Benedetti, Angelo

Publication type:

journal article

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Published in:

2003

By:

Neumann, Luitgard M.;
von Moers, Arpad;
Kunze, Jürgen;
Blankenstein, Oliver;
Marquardt, Thorsten;
Kunze, Jürgen

Publication type:

journal article

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results.

Published in:

Nutrients, 2024, v. 16, n. 19, p. 3244, doi. 10.3390/nu16193244

By:

Sowa, Mary;
Boyer, Monica;
Green, Jessica;
Pendyal, Surekha;
Saavedra, Heather

Publication type:

Article

Molecular Mechanisms of Biotin in Modulating Inflammatory Diseases.

Published in:

Nutrients, 2024, v. 16, n. 15, p. 2444, doi. 10.3390/nu16152444

By:

Sakurai-Yageta, Mika;
Suzuki, Yoichi

Publication type:

Article

Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance.

Published in:

Nutrients, 2023, v. 15, n. 20, p. 4376, doi. 10.3390/nu15204376

By:

Andres-Hernando, Ana;
Orlicky, David J.;
Kuwabara, Masanari;
Cicerchi, Christina;
Pedler, Michelle;
Petrash, Mark J.;
Johnson, Richard J.;
Tolan, Dean R.;
Lanaspa, Miguel A.

Publication type:

Article

Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease.

Published in:

2019

By:

Yeşilbaş, Osman;
Epçaçan, Serdar

Publication type:

journal article

De novo aortopathy and cardiovascular outcomes in paediatric liver transplant recipients.

Published in:

2018

By:

Huang, James G.;
Lim, Terence;
Quek, Swee-Chye;
Quak, Seng-Hock;
Aw, Marion M.

Publication type:

journal article

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

Published in:

Journal of Research in Medical Sciences, 2017, v. 22, p. 1, doi. 10.4103/jrms.JRMS_874_16

By:

Ebrahimi, Milad;
Behnam, Mahdieh;
Behranvand-Jazi, Nafiseh;
Yari, Ladan;
Sheikh-Kanlomilan, Sajad;
Salehi, Mansoor;
Tahmasebi, Pardis;
Amini, Mohaddeseh;
Behjati, Mohaddeseh;
Hosseini, Nafisehsadat

Publication type:

Article

Early Recognition and Management Of Rare Kidney Stone Disorders.

Published in:

Urologic Nursing, 2017, v. 37, n. 2, p. 81, doi. 10.7257/1053-816X.2017.37.2.81

By:

Goldstein, Ross;
Goldfarb, David S.

Publication type:

Article

Visual hallucinations in a patient with adult onset acid maltase deficiency disorder.

Published in:

2009

By:

Patil, Ritesh;
DePriest, Jack L.

Publication type:

journal article

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.

Published in:

2018

By:

van der Meijden, Jan C.;
Kruijshaar, Michelle E.;
Rizopoulos, Dimitris;
van Doorn, Pieter A.;
van der Beek, Nadine A. M. E.;
van der Ploeg, Ans T.

Publication type:

journal article

Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Published in:

2018

By:

Hensel, Ole;
Schneider, Ilka;
Wieprecht, Mathias;
Kraya, Torsten;
Zierz, Stephan

Publication type:

journal article

Donor-to-recipient transmission of factor XII deficiency by orthotopic liver transplantation.

Published in:

Baylor University Medical Center Proceedings, 2019, v. 32, n. 4, p. 596, doi. 10.1080/08998280.2019.1641041

By:

Elsiesy, Hussien;
Shawakat, Mohamed;
Alhamoudi, Waleed;
Alsebayel, Mohamed;
Renz, John;
Elbeshbeshy, Hany;
Abdelfattah, Mohamed;
Abaalkhail, Faisal

Publication type:

Article

Glycogenosis type V or McArdle's disease.

Published in:

2003

By:

Gordon, Neil

Publication type:

journal article

Advanced type 1 hyperoxaluria presenting as livedo racemosa in a patient with end-stage renal disease.

Published in:

2019

By:

Torres-Navarro, Ignacio;
Garcia-Bustos, Victor;
Botella-Estrada, Rafael;
Rojas-Ferrer, Nohelia;
Moral-Moral, Pedro

Publication type:

Case Study

Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.

Published in:

2020

By:

Raja, Mobeen;
Kinne, Rolf K. H.

Publication type:

journal article

Treatable lysosomal storage diseases in the advent of disease‐specific therapy.

Published in:

Internal Medicine Journal, 2020, v. 50, p. 5, doi. 10.1111/imj.15100

By:

Peters, Heidi;
Ellaway, Carolyn;
Nicholls, Kathleen;
Reardon, Katrina;
Szer, Jeff

Publication type:

Article

Perspectives on Exertional Rhabdomyolysis.

Published in:

Sports Medicine, 2017, v. 47, p. 33, doi. 10.1007/s40279-017-0689-z

By:

Rawson, Eric;
Clarkson, Priscilla;
Tarnopolsky, Mark

Publication type:

Article

McArdle Disease: A Unique Study Model in Sports Medicine.

Published in:

Sports Medicine, 2014, v. 44, n. 11, p. 1531, doi. 10.1007/s40279-014-0223-5

By:

Santalla, Alfredo;
Nogales-Gadea, Gisela;
Ørtenblad, Niels;
Brull, Astrid;
Luna, Noemi;
Pinós, Tomàs;
Lucia, Alejandro

Publication type:

Article

Prevalence of glucose-6-phosphate dehydrogenase deficiency among neonates at a tertiary care centre in Lebanon.

Published in:

Journal of Medical Screening, 2012, v. 19, n. 2, p. 103, doi. 10.1258/jms.2012.011138

By:

Inati, Adlette;
Abbas, Hussein A.;
Boumitri, Christine;
Tecle, Najib

Publication type:

Article

Glucose-6-phosphate dehydrogenase deficiency reduces susceptibility to cancer of endodermal origin.

Published in:

Acta Oncologica, 2019, v. 58, n. 9, p. 1205, doi. 10.1080/0284186X.2019.1616815

By:

Pes, Giovanni Mario;
Errigo, Alessandra;
Soro, Sara;
Longo, Nunzio Pio;
Dore, Maria Pina

Publication type:

Article

Lactate production in McArdle's disease.

Published in:

1977

By:

Baksi, A. K.;
Buxton, P. H.;
Cochrane, P.;
Hughes, R. R.

Publication type:

journal article

Ketotic hypoglycaemia of childhood.

Published in:

1975

By:

Pierides, A. M.;
Anderson, J.;
Stansfeld, J. M.

Publication type:

journal article

Cell-Derived Microparticles in Blood Products from Blood Donors Deficient in Glucose-6-Phosphate Dehydrogenase.

Published in:

Laboratory Medicine, 2021, v. 52, n. 6, p. 528, doi. 10.1093/labmed/lmab007

By:

Noulsri, Egarit;
Lerdwana, Surada;
Palasuwan, Duangdao;
Palasuwan, Attakorn

Publication type:

Article

An Unexpected Emergency Request for Glucose-6-Phosphate Dehydrogenase Testing in a 9-Year-Old African American Boy.

Published in:

2015

By:

Platteborze, Peter;
Matos, Renee;
Gidvany-Diaz, Vinod;
Wilhelms, Kelly

Publication type:

Case Study

Impairment of muscle mitochondrial oxidative metabolism in McArdles's disease.

Published in:

1996

By:

De Stefano, Nicola;
Argov, Zohar;
Matthews, Paul M.;
Karpati, George;
Arnold, Douglas L.;
De Stefano, N;
Argov, Z;
Matthews, P M;
Karpati, G;
Arnold, D L

Publication type:

journal article

Velmanase Alfa-tycv.

Published in:: 2023
Publication type:: Product Review

Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.

Published in:

American Journal of Health-System Pharmacy, 2018, v. 75, n. 3, p. 97, doi. 10.2146/ajhp160961

By:

Belfield, Kristen D.;
Tichy, Eric M.

Publication type:

Article

Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain.

Published in:

2018

By:

Schoser, Benedikt

Publication type:

journal article

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Published in:

2018

By:

Ebbink, Berendine J.;
Poelman, Esther;
Aarsen, Femke K.;
Plug, Iris;
Régal, Luc;
Muentjes, Carsten;
van der Beek, Nadine A. M. E.;
Lequin, Maarten H.;
van der Ploeg, Ans T.;
van den Hout, Johanna M. P.

Publication type:

journal article

Evaluation of non-coding variation in GLUT1 deficiency.

Published in:

2016

By:

Liu, Yu‐Chi;
Lee, Jia Wei Audrey;
Bellows, Susannah T;
Damiano, John A;
Mullen, Saul A;
Berkovic, Samuel F;
Bahlo, Melanie;
Scheffer, Ingrid E;
Hildebrand, Michael S;
Ryan, Monique M.;
Leventer, Richard J.;
Freeman, Jeremy L.;
Mackay, Mark T.;
Hayman, Michael;
Rodriguez‐Casero, Victoria;
Subramanian, Gopi;
Webster, Richard;
Sadleir, Lynette G.

Publication type:

journal article

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Published in:

2016

By:

Barba, Carmen;
Darra, Francesca;
Cusmai, Raffaella;
Procopio, Elena;
Dionisi Vici, Carlo;
Keldermans, Liesbeth;
Vuillaumier-Barrot, Sandrine;
Lefeber, Dirk J;
Guerrini, Renzo;
CDG Group

Publication type:

journal article

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.

Published in:

2015

By:

Schoeler, Natasha E;
Cross, Judith Helen;
Drury, Suzanne;
Lench, Nicholas;
McMahon, Jacinta M;
MacKay, Mark T;
Scheffer, Ingrid E;
Sander, Josemir W;
Sisodiya, Sanjay M

Publication type:

journal article

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.

Published in:

2003

By:

Asipu, Aruna;
Hayward, Bruce E.;
O'Reilly, John;
Bonthron, David T.

Publication type:

journal article

Danon disease: Rare cause of cardiomyopathy.

Published in:

Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 12, p. 1288, doi. 10.33963/v.kp.97064

By:

Dzierla, Julia;
Pelczar-Płachta, Weronika;
Baszkowski, Filip;
Bobkowski, Waldemar

Publication type:

Article