Works matching DE "INBORN errors of carbohydrate metabolism"

Results: 247

Beneficios de la dieta cetogénica en la enfermedad de McArdle: empoderando a un paciente.

Published in:

Metas de Enfermería, 2018, v. 21, n. 8, p. 28

By:

Soria, Héctor Nafría;
Portillo, Rocío Campos del;
Moreno-España, José

Publication type:

Article

'Rapid transit' constipation in children: a possible genesis for irritable bowel syndrome.

Published in:

2020

By:

Hutson, J. M.;
Hynes, M. C.;
Kearsey, I.;
Yik, Y. I.;
Veysey, D. M.;
Tudball, C. F.;
Cain, T. M.;
King, S. K.;
Southwell, B. R.

Publication type:

journal article

My Diagnostic Odyssey—A Call to Expand Access to Genomic Testing for the Next Generation.

Published in:

Hastings Center Report, 2018, v. 48, p. S32, doi. 10.1002/hast.882

By:

Michelson, Jeremy

Publication type:

Article

Relationship between Size of the Foveal Avascular Zone and Carbohydrate Metabolic Disorders during Pregnancy.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/3261279

By:

Sugimoto, Masahiko;
Wakamatsu, Yasuko;
Miyata, Ryohei;
Matsubara, Hisashi;
Kondo, Mineo;
Kamimoto, Yuki;
Ikeda, Tomoaki

Publication type:

Article

The Influence of FTO Polymorphism rs9939609 on Obesity, Some Clinical Features, and Disturbance of Carbohydrate Metabolism in Patients with Psoriasis.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/7304345

By:

Tupikowska-Marzec, Małgorzata;
Kolačkov, Katarzyna;
Zdrojowy-Wełna, Aleksandra;
Słoka, Natalia K.;
Szepietowski, Jacek C.;
Maj, J.

Publication type:

Article

Histopathologic Perspective of Combined Liver–kidney Transplant: In Primary Hyperoxaluria Type 1 Patient.

Published in:

Indian Journal of Transplantation, 2024, v. 18, n. 3, p. 324, doi. 10.4103/ijot.ijot_22_24

By:

Gore, Charusheela Rajesh;
Iqbal, Banyameen;
Chhablani, Nikita Ghanshamdas

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

Infantile Pompe Disease and Enzyme Replacement Therapy.

Published in:

2017

By:

Amdani, Shahnawaz M;
Sanil, Yamuna

Publication type:

Case Study

Congenital Sucrase-Isomaltase Deficiency: What, When, and How?

Published in:

Gastroenterology & Hepatology, 2020, v. 16, n. 10, p. 3

By:

Chey, William D.;
Cash, Brooks;
Lembo, Anthony;
Patel, Daksesh B.;
Scarlata, Kate

Publication type:

Article

Long-Term Clinical Course of Glut1 Deficiency Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822

By:

Alter, Aliza S.;
Engelstad, Kristin;
Hinton, Veronica J.;
Montes, Jacqueline;
Pearson, Toni S.;
Akman, Cigdem I.;
De Vivo, Darryl C.

Publication type:

Article

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Published in:

2017

By:

Byrne, Barry J.;
Geberhiwot, Tarekegn;
Barshop, Bruce A.;
Barohn, Richard;
Hughes, Derralynn;
Bratkovic, Drago;
Desnuelle, Claude;
Laforet, Pascal;
Mengel, Eugen;
Roberts, Mark;
Haroldsen, Peter;
Reilley, Kristin;
Jayaram, Kala;
Ke Yang;
Walsh, Liron;
Yang, Ke;
POM-001/002 Investigators

Publication type:

journal article

Analysis of voice quality in patients with late-onset Pompe disease.

Published in:

2016

By:

Szklanny, Krzysztof;
Gubrynowicz, Ryszard;
Iwanicka-Pronicka, Katarzyna;
Tylki-Szymańska, Anna

Publication type:

journal article

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Published in:

2016

By:

Sabry, S.;
Vuillaumier-Barrot, S.;
Mintet, E.;
Fasseu, M.;
Valayannopoulos, V.;
Héron, D.;
Dorison, N.;
Mignot, C.;
Seta, N.;
Chantret, I.;
Dupré, T.;
Moore, S. E. H.

Publication type:

journal article

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Published in:

2016

By:

Van Capelle, C. I.;
Van der Meijden, J. C.;
Van den Hout, J. M. P.;
Jaeken, J.;
Baethmann, M.;
Voit, T.;
Kroos, M. A.;
Derks, T. G. J.;
Rubio-Gozalbo, M. E.;
Willemsen, M. A.;
Lachmann, R. H.;
Mengel, E.;
Michelakakis, H.;
de Jongste, J. C.;
Reuser, A. J. J.;
Van der Ploeg, A. T.

Publication type:

journal article

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Published in:

2016

By:

Steven Shinn-Forng Peng;
Wuh-Liang Hwu;
Ni-Chung Lee;
Fuu-Jen Tsai;
Wen-Hui Tsai;
Yin-Hsiu Chien;
Peng, Steven Shinn-Forng;
Hwu, Wuh-Liang;
Lee, Ni-Chung;
Tsai, Fuu-Jen;
Tsai, Wen-Hui;
Chien, Yin-Hsiu

Publication type:

journal article

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

Published in:

2016

By:

Santer, René;
du Moulin, Marcel;
Shahinyan, Tatevik;
Vater, Inga;
Maier, Esther;
Muntau, Ania C.;
Steinmann, Beat

Publication type:

journal article

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Published in:

2016

By:

Lévesque, Sébastien;
Auray-Blais, Christiane;
Gravel, Elaine;
Boutin, Michel;
Dempsey-Nunez, Laura;
Jacques, Pierre-Etienne;
Chenier, Sébastien;
Larue, Sandrine;
Rioux, Marie-France;
Al-Hertani, Walla;
Nadeau, Amelie;
Mathieu, Jean;
Maranda, Bruno;
Désilets, Valérie;
Waters, Paula J.;
Keutzer, Joan;
Austin, Stephanie;
Kishnani, Priya

Publication type:

journal article

A conceptual disease model for adult Pompe disease.

Published in:

2015

By:

Kanters, Tim A.;
Redekop, W. Ken;
Rutten-Van Mölken, Maureen P. M. H.;
Kruijshaar, Michelle E.;
Güngör, Deniz;
van der Ploeg, Ans T.;
Hakkaart, Leona

Publication type:

journal article

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 2, p. 86, doi. 10.4103/jpn.JPN_145_18

By:

Incecik, Faruk;
Herguner, Ozlem;
Mungan, Neslihan

Publication type:

Article

Efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria: A systematic review and meta-analysis of randomized controlled trials.

Published in:

Indian Journal of Urology, 2025, v. 41, n. 1, p. 11, doi. 10.4103/iju.iju_359_24

By:

Khan, Ubaid;
Mubariz, Muhammad;
Rezq, Hazem;
Mahmoud, Abdelrahman;
Moiz Nasir, Muhammad;
Ul Ain, Noor;
Bazai, Umar Khan;
Khan, Maleeka Zamurad;
Abuelazm, Mohamed

Publication type:

Article

Nedosiran in primary hyperoxaluria type 1: a profile of its use: Nedosiran in primary hyperoxaluria type 1: a profile of its use: N.L. France, Y.Y. Syed.

Published in:

Drugs & Therapy Perspectives, 2025, v. 41, n. 1, p. 19, doi. 10.1007/s40267-024-01127-z

By:

France, Nicole L.;
Syed, Yahiya Y.

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

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255

By:

Şanlı, Merve Emecen;
Aktaş, Emine;
İnci, Aslı;
Okur, İlyas;
Ezgü, Fatih;
Tümer, Leyla

Publication type:

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

Genetic counseling for congenital disorders of glycosylation (CDG).

Published in:

Journal of Genetic Counseling, 2024, v. 33, n. 6, p. 1358, doi. 10.1002/jgc4.1856

By:

Weixel, Tara;
Wolfe, Lynne;
Macnamara, Ellen F.

Publication type:

Article

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1404, doi. 10.1002/jgc4.1615

By:

Prakash, Supraja;
Penn, Jeremy D.;
Jackson, Kelly E.;
Dean, Lori Williamson

Publication type:

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

Hypercalcemia in an Infant with Primary Hyperoxaluria Type 2: A Novel Association.

Published in:

Indian Journal of Nephrology, 2023, v. 33, n. 5, p. 387, doi. 10.4103/ijn.ijn_140_22

By:

Singhania, Pankaj;
Ghosh, Arunava;
Bhattacharjee, Rana;
Chowdhury, Subhankar;
Datta, Dipanjana

Publication type:

Article

Pancytopenia as a Complication of Primary Hyperoxaluria.

Published in:

Indian Journal of Nephrology, 2019, v. 29, n. 3, p. 214, doi. 10.4103/ijn.IJN_204_18

By:

Khosravi, M.;
Kord, S.;
Mokhtari, M.

Publication type:

Article

Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.

Published in:

Indian Journal of Nephrology, 2017, v. 27, n. 5, p. 402, doi. 10.4103/ijn.IJN_261_16

By:

Krishnamurthy, S.;
Kartha, G. B.;
Venkateswaran, V. S.;
Prasannakumar, M.;
Mahadevan, S.;
Gowda, M.;
Pelle, A.;
Giachino, D.

Publication type:

Article

Life-threatening haemolysis induced by henna in a Sudanese child with glucose-6-phosphate dehydrogenase deficiency.

Published in:

2017

By:

Kheir, Abdelmoneim;
Gaber, Israa;
Gafer, Sara;
Ahmed, Wisal

Publication type:

Case Study

Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.

Published in:

Journal of Postgraduate Medicine, 2018, v. 64, n. 3, p. 180, doi. 10.4103/jpgm.JPGM_216_17

By:

Sharma, A;
Kanwal, S;
Chhapola, V;
Kumar, V

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

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

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

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 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

Journal Scan.

Published in:

Asian Journal of Pediatric Nephrology, 2023, v. 6, n. 1, p. 37, doi. 10.4103/ajpn.ajpn_9_23

By:

Bindal, Tanvi

Publication type:

Article

Primary Hyperoxaluria Involving the Liver With Crystal Deposits.

Published in:

ACG Case Reports Journal, 2019, v. 6, n. 2, p. 1, doi. 10.14309/crj.0000000000000029

By:

Bansal, Nalini;
Vij, Vivek;
Rastogi, Mukul

Publication type:

Article

Effective pyridoxine for seizures in inherited glycosylphosphatidylinositol anchor deficiency with PIGT variants.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15854

By:

Ochiai, Kenta;
Murofushi, Yuka;
Sano, Kentaro;
Murakami, Yoshiko;
Matsumoto, Naomichi;
Takanashi, Jun‐ichi

Publication type:

Article

Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot.

Published in:

2021

By:

Shimozono, Tsubasa;
Ueno, Kentaro;
Shiokawa, Naohiro;
Ohno, Seiko;
Kawano, Yoshifumi

Publication type:

Case Study

Influenza‐induced hemolytic crisis in glucose‐6‐phosphate dehydrogenase deficiency.

Published in:

Pediatrics International, 2020, v. 62, n. 8, p. 1003, doi. 10.1111/ped.14226

By:

Miyaoka, Futaba;
Toyofuku, Etsushi;
Isoda, Takeshi;
Moiro, Tomohiro;
Kanegane, Hirokazu

Publication type:

Article

Mannosyl‐oligosaccharide glucosidase – congenital disorder of glycosylation: A patient with novel variants.

Published in:

2020

By:

Ota, Mikito;
Miyahara, Jun;
Itano, Ayumi;
Sugiura, Hiroshi;
Ohki, Shigeru

Publication type:

Case Study

Congenital glucose-galactose malabsorption diagnosed from macrohematuria in an infant.

Published in:

Pediatrics International, 2016, v. 58, n. 12, p. 1365, doi. 10.1111/ped.13047

By:

Yoshimura, Ryoko;
Fujii, Tohru;
Endo, Amane;
Kudo, Takahiro;
Shimizu, Toshiaki

Publication type:

Article

Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).

Published in:

Pediatric Nephrology, 2025, v. 40, n. 6, p. 1939, doi. 10.1007/s00467-025-06675-8

By:

Sas, David J.;
Bakkaloglu, Sevcan A.;
Belostotsky, Vladimir;
Hayes, Wesley;
Ariceta, Gema;
Zhou, Jing;
Rawson, Verity

Publication type:

Article

Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 6, p. 1929, doi. 10.1007/s00467-025-06665-w

By:

Saffe, Sina;
Doerry, Katja;
Büscher, Anja K.;
Hansen, Matthias;
Rohmann, Melanie;
Kanzelmeyer, Nele;
Latta, Kay;
Kemper, Markus J.;
Loos, Sebastian

Publication type:

Article