Works matching DE "INBORN errors of metabolism"

Results: 2285

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 5, p. 323, doi. 10.3390/metabo15050323

By:

Yu, Ketian;
Estrada, Karol;
Esko, Tõnu;
Kals, Mart;
Nikopensius, Tiit;
Kronberg, Jaanika;
Võsa, Urmo;
Wuster, Arthur;
Bomba, Lorenzo

Publication type:

Article

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 5, p. 308, doi. 10.3390/metabo15050308

By:

Tommolini, Maria Lucia;
Cufaro, Maria Concetta;
Valentinuzzi, Silvia;
Cicalini, Ilaria;
Zucchelli, Mirco;
Frisco, Alberto;
Simonetti, Simonetta;
Perrone Donnorso, Michela;
Moccia, Sara;
Bucci, Ines;
Aricò, Maurizio;
De Laurenzi, Vincenzo;
Federici, Luca;
Pieragostino, Damiana;
Rossi, Claudia

Publication type:

Article

Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02008-5

By:

Abuzaid, Yasmine;
Suliman, Ghada Abdul Moemn;
Toulba, Osama Abd Rab El Rasool;
Elezz, Ahmed Abd El Basset Abo;
Badraldeen, Alshimaa;
Dawoud, Heba

Publication type:

Article

Updated Gene Therapy for Renal Inborn Errors of Metabolism.

Published in:

Genes, 2025, v. 16, n. 5, p. 516, doi. 10.3390/genes16050516

By:

Hergenrother, Sean;
Husein, Mustafa;
Thompson, Cole;
Kalina, Ethan;
Raina, Rupesh

Publication type:

Article

DIFERENCIJALNA DIJAGNOZA HIPOTONIJE U DOJENAČKOJ DOBI.

Published in:

Fizikalna i Rehabilitacijska Medicina, 2025, v. 39, n. 1/2, p. 45, doi. 10.21751/FRM-39-1-2-5

By:

Klanac, Matea;
Matijević, Valentina;
Karšaj, Jelena Marunica;
Šušak, Velimir

Publication type:

Article

Hematopoietic stem cell transplantation in children with inborn errors of metabolism -- experience of Polish Pediatric Stem Cell Transplantation Group.

Published in:

Acta Haematologica Polonica, 2025, v. 56, n. 2, p. 99, doi. 10.5603/ahp.102954

By:

Drabko, Katarzyna;
Homa, Wojciech Stanisław;
Wanat, Joanna;
Homa, Piotr Karol;
Fałkowska, Anna;
Mielcarek-Siedziuk, Monika;
Frączkiewicz, Jowita;
Deręgowski, Maksymilian;
Wachowiak, Jacek;
Goździk, Jolanta;
Kałwak, Krzysztof

Publication type:

Article

Epidemiological, clinical and laboratory profile of glucose-6-phosphate dehydrogenase deficiency in the middle and north of Iraq: a comparative study.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 8, p. 846, doi. 10.26719/2010.16.8.846

By:

Al-Mendalawi, M.D.

Publication type:

Article

Obstructed umbilical hernia in a child with Hurler's syndrome.

Published in:

Indian Journal of Surgery, 2005, v. 67, n. 1, p. 49

By:

Gopinath, Goutham;
Nagaraj, P.;
Kulkarni, M. L.

Publication type:

Article

Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Published in:

Neurology India, 2025, v. 73, n. 1, p. 145, doi. 10.4103/ni.ni_579_22

By:

Devi, Akella Radha Rama

Publication type:

Article

A Rare Presentation of Glutaric Aciduria Type 1 in an Adult.

Published in:

2024

By:

Chandrasekhar, E;
Nagabushana, Divya;
Javali, Mahendra V.

Publication type:

Letter

Check Pupils in a Comatose Newborn for Clues in Investigation.

Published in:

Neurology India, 2024, v. 72, n. 3, p. 655, doi. 10.4103/neurol-india.Neurol-India-D-24-00319

By:

Khare, Chetan;
Parmar, Vimesh;
Sandhu, Arshpreet

Publication type:

Article

Hurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases - Is it Mucolipidosis?

Published in:

2021

By:

Sharawat, Indar;
Kasinathan, Ananthanarayanan;
Das, Gargi;
Bhatia, Prateek;
Sankhyan, Naveen;
Sharawat, Indar K

Publication type:

Letter

Infantile form of Niemann-Pick disease type C with demyelination: An uncommon feature.

Published in:

2019

By:

Tiewsoh, Karalanglin;
Gupta, Kirti;
Bhatia, Anmol

Publication type:

journal article

Unexplained encephalopathy with phenytoin toxicity - hyperammonemia, the underlying cause.

Published in:

2018

By:

Pandey, Sudhakar;
Sharma, Praveen K;
Garg, Ravindra K;
Takalkar, Kedar

Publication type:

Letter

Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

Published in:

2018

By:

Sundaram, Soumya;
Nair, Muralidharan;
Namboodhiri, Sheela;
Menon, Ramshekhar N

Publication type:

Case Study

Peripartum seizures in Albright's osteodystrophy: Is it hypocalcemia or embolic stroke?

Published in:

2018

By:

Chatterjee, Rudrarpan;
Nagar, Vidya S.;
Kumbhare, Deevya;
Sajjan, Basavaraj

Publication type:

Case Study

Genomic imprinting disorders in humans: a mini-review.

Published in:

Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 9/10, p. 477, doi. 10.1007/s10815-009-9353-3

By:

Butler, Merlin G.

Publication type:

Article

Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.

Published in:

Molecular Biology Reports, 2024, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10194-4

By:

Mansoor, Sumreena;
Ali, Qamar;
Khan, Sabeen Abid;
Malik, Munir Iqbal;
Imran, Muhammad;
Qamar, Raheel;
Azam, Maleeha

Publication type:

Article

H+‐slip correlated to rotor free‐wheeling as cause of F<sub>1</sub>F<sub>O</sub>‐ATPase dysfunction in primary mitochondrial disorders.

Published in:

Medicinal Research Reviews, 2024, v. 44, n. 3, p. 1183, doi. 10.1002/med.22013

By:

Nesci, Salvatore;
Romeo, Giovanni

Publication type:

Article

Epidemiology of Pediatric Hypertrophic Cardiomyopathy in a 10-Year Medicaid Cohort.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 1, p. 210, doi. 10.1007/s00246-020-02472-2

By:

Nandi, Deipanjan;
Hayes, Emily A.;
Wang, Yinding;
Jerrell, Jeanette M.

Publication type:

Article

The molecular basis of glutamate formiminotransferase deficiency (Communicated by R. Garry Cutting).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236

By:

John F. Hilton;
Karen E. Christensen;
David Watkins;
Benjamin A. Raby;
Yannick Renaud;
Susanna de la Luna;
Xavier Estivill;
Robert E. MacKenzie

Publication type:

Article

The molecular basis of glutamate formiminotransferase deficiencyCommunicated by R. Garry Cutting.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236

By:

John F. Hilton;
Karen E. Christensen;
David Watkins;
Benjamin A. Raby;
Yannick Renaud;
Susanna de la Luna;
Xavier Estivill;
Robert E. MacKenzie;
Thomas J. Hudson;
David S. Rosenblatt

Publication type:

Article

Hypophosphatasia: presentation and response to asfotase alfa.

Published in:

Osteoporosis International, 2024, v. 35, n. 4, p. 717, doi. 10.1007/s00198-023-06943-z

By:

Alsarraf, F.;
Ali, D.S.;
Almonaei, K.;
Al-Alwani, H.;
Khan, A.A.;
Brandi, M.L.

Publication type:

Article

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.

Published in:

Osteoporosis International, 2024, v. 35, n. 3, p. 439, doi. 10.1007/s00198-023-06859-8

By:

Brandi, Maria Luisa;
Khan, Aliya A.;
Rush, Eric T.;
Ali, Dalal S.;
Al-Alwani, Hatim;
Almonaei, Khulod;
Alsarraf, Farah;
Bacrot, Severine;
Dahir, Kathryn M.;
Dandurand, Karel;
Deal, Chad;
Ferrari, Serge Livio;
Giusti, Francesca;
Guyatt, Gordon;
Hatcher, Erin;
Ing, Steven W.;
Javaid, Muhammad Kassim;
Khan, Sarah;
Kocijan, Roland;
Lewiecki, E. Michael

Publication type:

Article

Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.

Published in:

Osteoporosis International, 2024, v. 35, n. 1, p. 195, doi. 10.1007/s00198-023-06878-5

By:

Gonnelli, S.;
Briot, K.;
Cormier, C.;
Teboul, S.;
Roux, C.;
Koumakis, E.

Publication type:

Article

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.

Published in:

Osteoporosis International, 2024, v. 35, n. 1, p. 1, doi. 10.1007/s00198-023-06843-2

By:

Rush, Eric;
Brandi, Maria Luisa;
Khan, Aliya;
Ali, Dalal S.;
Al-Alwani, Hatim;
Almonaei, Khulod;
Alsarraf, Farah;
Bacrot, Severine;
Dahir, Kathryn M.;
Dandurand, Karel;
Deal, Chad;
Ferrari, Serge Livio;
Giusti, Francesca;
Guyatt, Gordon;
Hatcher, Erin;
Ing, Steven W.;
Javaid, Muhammad Kassim;
Khan, Sarah;
Kocijan, Roland;
Lewiecki, E. Michael

Publication type:

Article

Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology.

Published in:

Osteoporosis International, 2023, v. 34, n. 9, p. 1647, doi. 10.1007/s00198-023-06749-z

By:

Rauf, Muhammad A.;
Kotecha, Jalpa;
Moss, Katie

Publication type:

Article

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.

Published in:

Osteoporosis International, 2023, v. 34, n. 2, p. 405, doi. 10.1007/s00198-022-06609-2

By:

Peris, Pilar;
Monegal, Ana;
Mäkitie, Riikka E.;
Guañabens, Nuria;
González-Roca, Eva

Publication type:

Article

A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients.

Published in:

Osteoporosis International, 2023, v. 34, n. 2, p. 327, doi. 10.1007/s00198-022-06597-3

By:

Ng, Elisabeth;
Ashkar, Claudia;
Seeman, Ego;
Schneider, Hans G.;
Nguyen, Hanh;
Ebeling, Peter R.;
Sztal-Mazer, Shoshana

Publication type:

Article

Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study.

Published in:

Osteoporosis International, 2022, v. 33, n. 12, p. 2595, doi. 10.1007/s00198-022-06536-2

By:

Hepp, Nicola;
Frederiksen, Anja Lisbeth;
Duno, Morten;
Jørgensen, Niklas Rye;
Jensen, Jens-Erik Beck

Publication type:

Article

Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa.

Published in:

Osteoporosis International, 2021, v. 32, n. 12, p. 2505, doi. 10.1007/s00198-021-06025-y

By:

Seefried, L.;
Rak, D.;
Petryk, A.;
Genest, F.

Publication type:

Article

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?

Published in:

Osteoporosis International, 2021, v. 32, n. 12, p. 2461, doi. 10.1007/s00198-021-05893-8

By:

Masi, L.;
Marini, F.;
Franceschelli, F.;
Leoncini, G.;
Cianferotti, L.;
Cioppi, F.;
Giusti, F.;
Marcucci, G.;
Gronchi, G.;
Brandi, M. L.

Publication type:

Article

Bone mineral density and fracture risk in adult patients with hypophosphatasia.

Published in:

Osteoporosis International, 2021, v. 32, n. 2, p. 377, doi. 10.1007/s00198-020-05612-9

By:

Genest, F.;
Claußen, L.;
Rak, D.;
Seefried, L.

Publication type:

Article

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.

Published in:

Osteoporosis International, 2020, v. 31, n. 11, p. 2251, doi. 10.1007/s00198-020-05490-1

By:

Martins, L.;
dos Santos, E.L.;
de Almeida, A.B.;
Machado, R.A.;
Lyrio, A.M.;
Foster, B.L.;
Kantovitz, K.R.;
Coletta, R.D.;
Nociti, F.H.

Publication type:

Article

Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.

Published in:

Osteoporosis International, 2020, v. 31, n. 8, p. 1445, doi. 10.1007/s00198-020-05345-9

By:

Bianchi, M. L.;
Bishop, N. J.;
Guañabens, N.;
Hofmann, C.;
Jakob, F.;
Roux, C.;
Zillikens, M. C.

Publication type:

Article

Hypophosphatasia: Canadian update on diagnosis and management.

Published in:

Osteoporosis International, 2019, v. 30, n. 9, p. 1713, doi. 10.1007/s00198-019-04921-y

By:

Khan, A.A.;
Josse, R.;
Kannu, P.;
Villeneuve, J.;
Paul, T.;
Van Uum, S.;
Greenberg, C.R.

Publication type:

Article

Correction to: Hypophosphatasia: Canadian update on diagnosis and management.

Published in:

2019

By:

Khan, A.A.;
Josse, R.;
Kannu, P.;
Villeneuve, J.;
Paul, T.;
Van Uum, S.;
Greenberg, C.R.

Publication type:

Correction Notice

Neurological symptoms in Hypophosphatasia.

Published in:

Osteoporosis International, 2019, v. 30, n. 2, p. 469, doi. 10.1007/s00198-018-4691-6

By:

Colazo, J.M.;
Hu, J.R.;
Dahir, K.M.;
Simmons, J.H.

Publication type:

Article

Reappearance of hypomineralized bone after discontinuation of asfotase alfa treatment for severe childhood hypophosphatasia.

Published in:

2018

By:

Bowden, S. A.;
Adler, B. H.

Publication type:

Case Study

Abnormal bone turnover in individuals with low serum alkaline phosphatase.

Published in:

Osteoporosis International, 2018, v. 29, n. 9, p. 2147, doi. 10.1007/s00198-018-4571-0

By:

López-Delgado, L.;
Riancho-Zarrabeitia, L.;
García-Unzueta, M. T.;
Tenorio, J. A.;
García-Hoyos, M.;
Lapunzina, P.;
Valero, C.;
Riancho, J. A.

Publication type:

Article

Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia—not atypical at all.

Published in:

Osteoporosis International, 2018, v. 29, n. 8, p. 1815, doi. 10.1007/s00198-018-4552-3

By:

Genest, F.;
Seefried, L.

Publication type:

Article

Asfotase alfa treatment for 1 year in a 16 year-old male with severe childhood hypophosphatasia.

Published in:

Osteoporosis International, 2018, v. 29, n. 2, p. 511, doi. 10.1007/s00198-017-4267-x

By:

Bowden, S. A.;
Adler, B. H.

Publication type:

Article

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Published in:

Amino Acids, 2022, v. 54, n. 5, p. 777, doi. 10.1007/s00726-022-03128-6

By:

Stanescu, Sinziana;
Belanger-Quintana, Amaya;
Fernandez-Felix, Borja Manuel;
Ruiz-Sala, Pedro;
del Valle, Mercedes;
Garcia, Fernando;
Arrieta, Francisco;
Martinez-Pardo, Mercedes

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

REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B.

Published in:

Turkish Medical Student Journal, 2024, v. 11, n. 2, p. 50, doi. 10.4274/tmsj.galenos.2024.2024-2-1

By:

Özkan, Hasan Selçuk;
Aydın, Ece Derin;
Mammadova, Sakina;
Çoker, Mahmut

Publication type:

Article

Evaluation of Metabolic Disorders in Pediatric Department at Zagazig University Hospital.

Published in:

Zagazig University Medical Journal, 2023, v. 29, n. 2, p. 442, doi. 10.21608/zumj.2021.72829.2196

By:

Elsayyad, Esraa H.;
Beshir, Mohamed R.;
Emam, Ahmed

Publication type:

Article

Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries.

Published in:

Advanced Biology, 2023, v. 7, n. 7, p. 1, doi. 10.1002/adbi.202200318

By:

Wasim, Muhammad;
Khan, Haq Nawaz;
Ayesha, Hina;
Awan, Fazli Rabbi

Publication type:

Article

N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 81, doi. 10.3390/ijns10040081

By:

Pickens, C. Austin;
Sah, Samyukta;
Chandrappa, Rahul;
Isenberg, Samantha L.;
Courtney, Elya R.;
Lim, Timothy;
Chace, Donald H.;
Lee, Rachel;
Cuthbert, Carla;
Petritis, Konstantinos

Publication type:

Article

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 72, doi. 10.3390/ijns10040072

By:

Alshehri, Abdullah S.;
Peer-Zada, Abdul A.;
Algadhi, Abeer A.;
Aldehaimi, Abdulwahed;
Saleh, Mohammed A.;
Mushiba, Aziza M.;
Faqeih, Eissa A.;
AlAsmari, Ali M.

Publication type:

Article

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 10, doi. 10.3390/ijns11010010

By:

Rodrigues, Diogo;
Marcão, Ana;
Lopes, Lurdes;
Ventura, Ana;
Faria, Teresa;
Ferrão, Anabela;
Gonçalves, Carolina;
Kjöllerström, Paula;
Castro, Ana;
Fraga, Sofia;
Almeida, Marta;
Maia, Tabita;
Gomes, João;
Lachado, Ana;
Guerra, Isabel;
Ferreira, Fátima;
Trigo, Fernanda;
Bento, Celeste;
Vilarinho, Laura

Publication type:

Article