Works about INBORN errors of carbohydrate metabolism

Results: 249

'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

Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.

Published in:

2021

By:

Colantuono, Rossella;
D'Acunto, Elisa;
Melis, Daniela;
Vajro, Pietro;
Freeze, Hudson H.;
Mandato, Claudia

Publication type:

journal article

Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.

Published in:

2021

By:

Deb, Chirajyoti;
Campion, Stephani;
Derrick, Veronica;
Ruiz, Vanessa;
Abomoelak, Bassam;
Avdella, Angelina;
Zou, Baiming;
Horvath, Karoly;
Mehta, Devendra I.

Publication type:

journal article

Fructose Malabsorption in Chilean Children Undergoing Fructose Breath Test at a Tertiary Hospital.

Published in:

2021

By:

Alliende, Francisco;
Lucero, Yalda;
Jaime, Francisca;
Ríos, Gloria;
Arancibia, María E.;
Rodriguez, Lorena

Publication type:

journal article

Structural Studies of the Intestinal α-Glucosidases, Maltase-glucoamylase and Sucrase-isomaltase.

Published in:

2018

By:

Rose, David R.;
Chaudet, Marcia M.;
Jones, Kyra

Publication type:

journal article

Metabolic Impacts of Maltase Deficiencies.

Published in:

2018

By:

Nichols, Buford L.;
Baker, Susan S.;
Quezada-Calvillo, Roberto

Publication type:

journal article

13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency.

Published in:

2018

By:

Robayo-Torres, Claudia C.;
Diaz-Sotomayor, Marisela;
Hamaker, Bruce R.;
Baker, Susan S.;
Chumpitazi, Bruno P.;
Opekun, Antone R.;
Nichols, Buford L.

Publication type:

journal article

Improved Starch Digestion of Sucrase-deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements.

Published in:

2017

By:

Nichols, Buford L.;
Avery, Stephen E.;
Quezada-Calvillo, Roberto;
Kilani, Shadi B.;
Amy Hui-Mei Lin;
Burrin, Douglas G.;
Hodges, Benjamin E.;
Chacko, Shaji K.;
Opekun, Antone R.;
El Hindawy, Marwa;
Hamaker, Bruce R.;
Sen-Ichi Oda;
Lin, Amy Hui-Mei;
Hindawy, Marwa El;
Oda, Sen-Ichi

Publication type:

journal article

Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.

Published in:

Journal of Palliative Medicine, 2017, v. 20, n. 1, p. 104, doi. 10.1089/jpm.2016.0232

By:

Trowbridge, Amy;
Stewart, Miriam T.;
Rhee, Eileen;
Hwang, Jennifer M.

Publication type:

Article

Oral manifestations in glycogen storage disease type 1b.

Published in:

1995

By:

Salapata, Yolanda;
Laskaris, George;
Drogari, Evridiki;
Harokopos, Eustathios;
Messaritakis, John;
Salapata, Y;
Laskaris, G;
Drogari, E;
Harokopos, E;
Messaritakis, J

Publication type:

journal article

Dental and jaw changes in primary hyperoxaluria.

Published in:

1989

By:

Hedemark, A.;
Bang, C.;
Gammeltvedt, A. T.;
Anda, S.;
Bang, G

Publication type:

journal article

Infantile Pompe Disease and Enzyme Replacement Therapy.

Published in:

2017

By:

Amdani, Shahnawaz M;
Sanil, Yamuna

Publication type:

Case Study

The possible role of glucose-6-phosphate dehydrogenase deficiency in COVID-19 global prevalence and distribution.

Published in:

Journal of Research in Medical Sciences, 2020, p. 1, doi. 10.4103/jrms.JRMS_322_20

By:

Khanahmad, Negar;
Khanahmad, Hossein;
Shariati, Laleh;
Rahimmanesh, Ilnaz;
Kouhpayeh, Shirin

Publication type:

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

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

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

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Published in:

2021

By:

Bogdańska, Anna;
Lipiński, Patryk;
Szymańska-Rożek, Paulina;
Jezela-Stanek, Aleksandra;
Rokicki, Dariusz;
Socha, Piotr;
Tylki-Szymańska, Anna

Publication type:

journal article

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Published in:

2020

By:

Scalco, Renata S.;
Lucia, Alejandro;
Santalla, Alfredo;
Martinuzzi, Andrea;
Vavla, Marinela;
Reni, Gianluigi;
Toscano, Antonio;
Musumeci, Olimpia;
Voermans, Nicol C.;
Kouwenberg, Carlyn V.;
Laforêt, Pascal;
San-Millán, Beatriz;
Vieitez, Irene;
Siciliano, Gabriele;
Kühnle, Enrico;
Trost, Rebeca;
Sacconi, Sabrina;
Stemmerik, Mads G.;
Durmus, Hacer;
Kierdaszuk, Biruta

Publication type:

journal article

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.

Published in:

2020

By:

van den Dorpel, J J A;
Poelman, E;
Harlaar, L;
van Kooten, H A;
van der Giessen, L J;
van Doorn, P A;
van der Ploeg, A T;
van den Hout, J M P;
van der Beek, N A M E

Publication type:

journal article

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

Published in:

2020

By:

Yuan, Meng;
Andrinopoulou, Eleni-Rosalina;
Kruijshaar, Michelle E.;
Lika, Aglina;
Harlaar, Laurike;
van der Ploeg, Ans T.;
Rizopoulos, Dimitris;
van der Beek, Nadine A. M. E.

Publication type:

journal article

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Published in:

2020

By:

Rossi, Alessandro;
Simeoli, Chiara;
Salerno, Mariacarolina;
Ferrigno, Rosario;
Della Casa, Roberto;
Colao, Annamaria;
Strisciuglio, Pietro;
Parenti, Giancarlo;
Pivonello, Rosario;
Melis, Daniela

Publication type:

journal article

Neuropsychological functioning following cardiac transplant in Danon disease.

Published in:

Developmental Neurorehabilitation, 2019, v. 22, n. 1, p. 67, doi. 10.1080/17518423.2017.1326184

By:

Salisbury, David;
Meredith, Katherine

Publication type:

Article

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01219-4

By:

Gragnaniello, Vincenza;
Deodato, Federica;
Gasperini, Serena;
Donati, Maria Alice;
Canessa, Clementina;
Fecarotta, Simona;
Pascarella, Antonia;
Spadaro, Giuseppe;
Concolino, Daniela;
Burlina, Alberto;
Parenti, Giancarlo;
Strisciuglio, Pietro;
Fiumara, Agata;
Casa, Roberto Della

Publication type:

Article

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.

Published in:

2021

By:

Farolfi, Martina;
Cechova, Anna;
Ondruskova, Nina;
Zidkova, Jana;
Kousal, Bohdan;
Hansikova, Hana;
Honzik, Tomas;
Liskova, Petra

Publication type:

journal article

Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus?

Published in:

Current Pediatric Reviews, 2017, v. 13, n. 3, p. 159

By:

Watchko, Jon F.

Publication type:

Article

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease.

Published in:

Clinical Medicine & Research, 2021, v. 19, n. 2, p. 90, doi. 10.3121/cmr.2021.1641

By:

Hamadeh, Majdi;
Nasrallah, Khalil;
Ajami, Zeinab;
Zeaiter, Rahil;
Abbas, Layan;
Hamadeh, Samih;
Fares, Jawad

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

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

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

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

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

Published in:

2019

By:

Vita, Giuseppe;
Vita, Gian Luca;
Musumeci, Olimpia;
Rodolico, Carmelo;
Messina, Sonia

Publication type:

journal 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

Late-Onset Pompe Disease With Left-Sided Bronchomalacia.

Published in:

Respiratory Care, 2015, v. 60, n. 2, p. e26, doi. 10.4187/respcare.03419

By:

Chia-Feng Yang;
Dau-Ming Niu;
Mei-Jy Jeng;
Yu-Sheng Lee;
Pei-Chen Taso;
Wen-Jue Soong

Publication type:

Article

Same Donor Laparoscopic Liver and Kidney Procurement for Sequential Living Donor Liver-Kidney Transplantation in Primary Hyperoxaluria Type I.

Published in:

2019

By:

Angelico, Roberta;
Guzzo, Isabella;
Pellicciaro, Marco;
Saffioti, Maria Cristina;
Grimaldi, Chiara;
Mourani, Chebl;
Smedile, Francesco;
Pariante, Rosanna;
Semprini, Alessia;
Monti, Lidia;
Candusso, Manila;
Dello Strologo, Luca;
Spada, Marco

Publication type:

journal article

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

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.

Published in:

2017

By:

Mbarek, Ibtihel Benhaj;
Mdimeg, Saoussen;
Moussa, Amira;
Zellama, Dorsaf;
Kaarout, Hayat;
Abdelmoula, Jaouida;
Achour, Abdellatif;
Abroug, Saoussen;
Omezzine, Asma;
Bouslama, Ali

Publication type:

journal article

Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning.

Published in:

2019

By:

Le Dudal, Marine;
Huguet, Léa;
Perez, Joëlle;
Vandermeersch, Sophie;
Bouderlique, Elise;
Tang, Ellie;
Martori, Carole;
Chemaly, Nicole;
Nabbout, Rima;
Haymann, Jean-Philippe;
Frochot, Vincent;
Baud, Laurent;
Deschênes, Georges;
Daudon, Michel;
Letavernier, Emmanuel

Publication type:

journal article

FDA awards orphan drug, rare pediatric disease designations to ABO-101 for PH1.

Published in:

Urology Times, 2025, v. 53, n. 4, p. 11

By:

Clarke, Hannah

Publication type:

Article

Treatment of hyperoxaluria: What is the urologist's role?

Published in:

2021

By:

WOOD, KYLE

Publication type:

Interview

Company teams with researchers on hyperoxaluria Tx trial.

Published in:: Urology Times, 2019, v. 47, n. 5, p. 31
Publication type:: Article

Primary hyperoxaluria: spectrum of clinical and imaging findings.

Published in:

2017

By:

Strauss, Sara;
Levin, Terry;
Waltuch, Temima;
Kaskel, Frederick;
Bivin, William;
Strauss, Sara B;
Levin, Terry L

Publication type:

journal 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

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

Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques.

Published in:

European Heart Journal - Cardiovascular Imaging, 2021, v. 22, n. 7, p. 800, doi. 10.1093/ehjci/jeaa176

By:

Pena, José Luiz Barros;
Santos, Wander Costa;
Siqueira, Maria Helena Albernaz;
Sampaio, Isaac Hermes;
Moura, Isabel Cristina Gomes;
Sternick, Eduardo Back

Publication type:

Article

Incremental value of three-dimensional strain imaging in Danon disease.

Published in:

European Heart Journal - Cardiovascular Imaging, 2012, v. 13, n. 10, p. 804, doi. 10.1093/ehjci/jes099

By:

Miani, Daniela;
Nucifora, Gaetano;
Piccoli, Gianluca;
Proclemer, Alessandro;
Badano, Luigi P.

Publication type:

Article

Speech Disorders in Children With Pompe Disease: Articulation, Resonance, and Voice Measures.

Published in:

American Journal of Speech-Language Pathology, 2023, v. 32, n. 4, p. 1501, doi. 10.1044/2023_AJSLP-22-00382

By:

Neel, Amy T.;
Crisp, Kelly D.;
Kishnani, Priya S.;
Jones, Harrison N.

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