Works matching DE "INBORN errors of metabolism diagnosis"

Results: 365

Global economic costs due to vivax malaria and the potential impact of its radical cure: A modelling study.

Published in:

2021

By:

Devine, Angela;
Battle, Katherine E.;
Meagher, Niamh;
Howes, Rosalind E.;
Dini, Saber;
Gething, Peter W.;
Simpson, Julie A.;
Price, Ric N.;
Lubell, Yoel

Publication type:

journal article

Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.

Published in:

2020

By:

Pfeffer, Daniel A;
Ley, Benedikt;
Howes, Rosalind E;
Adu, Patrick;
Alam, Mohammad Shafiul;
Bansil, Pooja;
Boum, Yap 2nd;
Brito, Marcelo;
Charoenkwan, Pimlak;
Clements, Archie;
Cui, Liwang;
Deng, Zeshuai;
Egesie, Ochaka Julie;
Espino, Fe Esperanza;
von Fricken, Michael E;
Hamid, Muzamil Mahdi Abdel;
He, Yongshu;
Henriques, Gisela;
Khan, Wasif Ali;
Khim, Nimol

Publication type:

journal article

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

Published in:

Amino Acids, 2012, v. 43, n. 2, p. 993, doi. 10.1007/s00726-011-1146-1

By:

Wada, Takahito;
Shimbo, Hiroko;
Osaka, Hitoshi

Publication type:

Article

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 382, doi. 10.5152/TurkArchPediatr.2023.23009

By:

Tin, Oğuzhan;
Zübarioğlu, Tanyel;
Cansever, Mehmet Şerif;
Kıykım, Ertuğrul;
Aktuğlu-Zeybek, Çiğdem

Publication type:

Article

Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 78, doi. 10.14744/TurkPediatriArs.2020.57984

By:

Satar, Mehmet;
Kurtoğlu, Ahmet İbrahim;
Yıldızdaş, Hacer Y.;
Mungan, Neslihan Önenli;
Özlü, Ferda;
Bişgin, Atıl

Publication type:

Article

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 75, doi. 10.14744/TurkPediatriArs.2020.38159

By:

Ceylan, Dilara;
Bayramoğlu, Elvan;
Polat, Emine;
Erdeve, Şenay Savaş;
Çetinkaya, Semra;
Aycan, Zehra

Publication type:

Article

Low Hemoglobin Saturation in the Setting of Hyperuricemia.

Published in:

2019

By:

Sarah Jung;
Sayad, Karen;
Staitieh, Bashar S.;
Jung, Sarah

Publication type:

journal article

Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/3460902

By:

Sarker, Suprovath Kumar;
Islam, Md Tarikul;
Biswas, Aparna;
Bhuyan, Golam Sarower;
Sultana, Rosy;
Sultana, Nusrat;
Rakhshanda, Shagoofa;
Begum, Mst. Noorjahan;
Rahat, Asifuzzaman;
Yeasmin, Sharmina;
Khanam, Mowshori;
Saha, Asim Kumar;
Noor, Farjana Akther;
Sajib, Abu A.;
Islam, Abul B. M. M. K.;
Qadri, Syeda Kashfi;
Shahidullah, Mohammod;
Mannan, Mohammad Abdul;
Muraduzzaman, A. K. M.;
Shirin, Tahmina

Publication type:

Article

Diagnosis and initial management of children presenting with premature loss of primary teeth associated with a systemic condition: A scoping review and development of clinical aid.

Published in:

International Journal of Paediatric Dentistry, 2024, v. 34, n. 6, p. 871, doi. 10.1111/ipd.13188

By:

Heggie, Claudia;
Al‐Diwani, Hiba;
Arundel, Paul;
Balmer, Richard

Publication type:

Article

Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective.

Published in:

International Journal of Paediatric Dentistry, 2016, v. 26, n. 6, p. 426, doi. 10.1111/ipd.12232

By:

Bloch‐Zupan, Agnès

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

Hyperkalemia in young children: blood pressure checked?

Published in:

2016

By:

Hollander, Richard;
Mortier, Geert;
Hoeck, Koen;
van Hoeck, Koen

Publication type:

journal article

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Published in:

2015

By:

Sato, Takeshi;
Muroya, Koji;
Hanakawa, Junko;
Iwano, Reiko;
Asakura, Yumi;
Tanaka, Yukichi;
Murayama, Kei;
Ohtake, Akira;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

journal article

Konversiyon Bozukluğu ile Karışan Tip II Sitrülinemi Olgusu.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2017, v. 30, n. 4, p. 364, doi. 10.5350/DAJPN2017300411

By:

Sarı, Seda Aybüke;
Özatalay, Esin

Publication type:

Article

بررسی کمبود آنزیم گلوکز 6 فسفات دهیدروژناز، هیپربیلی روبینمی و ناسازگاري خونی در نوزادن تازه متولد شده

Published in:

Arak Medical University Journal, 2015, v. 18, n. 1, p. 7

By:

یارپیروزي, علی;
جعفري, محمد;
بهمنی, میرزا خلیلی;
آزادي, محمد;
آبادي, حمد مهدي فیض;
افکاري, روحی

Publication type:

Article

INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.

Published in:

Revista Paulista de Pediatria, 2017, v. 35, n. 3, p. 258, doi. 10.1590/1984-0462/;2017;35;3;00012

By:

Romão, Andressa;
Simon, Priscila Endlich Alves;
Góes, José Eduardo Coutinho;
Pinto, Louise Lapagessede Camargo;
Giugliani, Roberto;
de Luca, Gisele Rozone;
Carvalho, Francisca Ligia Cirilo

Publication type:

Article

Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 3, p. 135, doi. 10.4274/tnd.galenos.2019.82608

By:

Üstkoyuncu, Pembe Soylu;
Güven, Ahmet Sami;
Poyrazoğlu, Hatice Gamze;
Gökay, Songül;
Kardaş, Fatih;
Kendirci, Mustafa;
Gökçek, İkbal;
Torun, Yasemin Altuner

Publication type:

Article

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 6, p. 2124, doi. 10.1007/s10803-020-04682-2

By:

Márquez-Caraveo, María Elena;
Ibarra-González, Isabel;
Rodríguez-Valentín, Rocío;
Ramírez-García, Miguel Ángel;
Pérez-Barrón, Verónica;
Lazcano-Ponce, Eduardo;
Vela-Amieva, Marcela

Publication type:

Article

Afebrile seizures in infants: Never forget magnesium!

Published in:

2018

By:

Minute, Marta;
Ventura, Giovanna;
Giorgi, Rita;
Faletra, Flavio;
Costa, Paola;
Cozzi, Giorgio

Publication type:

journal article

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

Published in:

2017

By:

Alfadhel, Majid;
Al Othaim, Ali;
Al Saif, Saif;
Al Mutairi, Fuad;
Alsayed, Moeenaldeen;
Rahbeeni, Zuhair;
Alzaidan, Hamad;
Alowain, Mohammed;
Al‐Hassnan, Zuhair;
Saeedi, Mohamad;
Aljohery, Saeed;
Alasmari, Ali;
Faqeih, Eissa;
Alwakeel, Mansour;
AlMashary, Maher;
Almohameed, Sulaiman;
Alzahrani, Mohammed;
Migdad, Abeer;
Al‐Dirbashi, Osama Y;
Rashed, Mohamed

Publication type:

journal article

Variable Use of Disaccharidase Assays When Evaluating Abdominal Pain.

Published in:

Gastroenterology & Hepatology, 2018, v. 14, n. 1, p. 26

By:

Cohen, Stanley A.;
Oloyede, Hannah

Publication type:

Article

Mucolipidosis Type II (I-cell Disease): A Rare Condition Resembling Hurler Syndrome: A Case Report.

Published in:

Hong Kong Journal of Radiology, 2020, v. 23, n. 1, p. 39, doi. 10.12809/hkjr2017142

By:

S. Yang;
TW Yeung;
HY Lau

Publication type:

Article

A Survey on Prader-Willi Syndrome in the Italian Population: Prevalence of Historical and Clinical Signs.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 10, p. 883

By:

Crinò, A.;
Di Giorgio, G.;
Livieri, C.;
Grugni, G.;
Beccaria, L.;
Bosio, L.;
Corrias, A.;
Chiumello, G.;
Trifirò, G.;
Salvatoni, A.;
Tonini, G.;
Gargantini, L.;
De Toni, T.;
Valerio, G.;
Ragusa, L.;
Franzese, A.;
Rinaldi, M. M.;
Spera, S.;
Gattinara, G. Castelli;
Villani, S.

Publication type:

Article

Identifying Metabolic Diseases That Precipitate Neonatal Seizures.

Published in:

Neonatal Network, 2024, v. 43, n. 3, p. 139, doi. 10.1891/NN-2023-0048

By:

Judy, Rebecca L.;
Reynolds, Joanna L.;
Jnah, Amy J.

Publication type:

Article

Glucose-6-Phosphate Dehydrogenase Deficiency and the Benefits of Early Screening.

Published in:

Neonatal Network, 2020, v. 39, n. 5, p. 270, doi. 10.1891/0730-0832.39.5.270

By:

DelFavero, Julie Jensen;
Jnah, Amy J.;
Newberry, Desi

Publication type:

Article

"Spleen Baby": A Case Presentation of Pyruvate Kinase Deficiency in an Amish Neonate.

Published in:

Neonatal Network, 2016, v. 35, n. 6, p. 375, doi. 10.1891/0730-0832.35.6.375

By:

Hackman, Pamela S.

Publication type:

Article

Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Published in:

2017

By:

Stinton, Chris;
Geppert, Julia;
Freeman, Karoline;
Clarke, Aileen;
Johnson, Samantha;
Fraser, Hannah;
Sutcliffe, Paul;
Taylor-Phillips, Sian

Publication type:

journal article

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Published in:

2017

By:

Mina Yang;
Sung Yun Cho;
Hyung-Doo Park;
Rihwa Choi;
Young-Eun Kim;
Jinsup Kim;
Soo-Youn Lee;
Chang-Seok Ki;
Jong-Won Kim;
Young Bae Sohn;
Junghan Song;
Dong-Kyu Jin;
Yang, Mina;
Cho, Sung Yun;
Park, Hyung-Doo;
Choi, Rihwa;
Kim, Young-Eun;
Kim, Jinsup;
Lee, Soo-Youn;
Ki, Chang-Seok

Publication type:

journal article

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Published in:

2016

By:

Al-Shamsi, Aisha;
Hertecant, Jozef L.;
Souid, Abdul-Kader;
Al-Jasmi, Fatma A.

Publication type:

journal article

Cystinosis: a review.

Published in:

2016

By:

Elmonem, Mohamed A.;
Veys, Koenraad R.;
Soliman, Neveen A.;
van Dyck, Maria;
van den Heuvel, Lambertus P.;
Levtchenko, Elena

Publication type:

journal article

Common Neonatal Conditions.

Published in:: 2014
Publication type:: Chart/Diagram/Graph

Children with Inborn Errors of Metabolism: Recognizing the Unusual and Life-threatening.

Published in:: Pediatric Emergency Medicine Reports, 2008, v. 13, n. 10, p. 121
Publication type:: Article

Hiperoxaluria primaria tipo 2 y oxalosis sistémica. Reporte de caso.

Published in:

Revista Medica Herediana, 2019, v. 30, n. 3, p. 178, doi. 10.20453/rmh.v30i3.3585

By:

Loza Munarriz, Reyner;
Ponce Gambini, Jenny;
Ynguil Muñoz, Angélica;
Sarmiento Barrientos, Tatiana;
Cok García, Jaime

Publication type:

Article

Inborn Errors of Metabolism in Elderly Adults.

Published in:

2016

By:

Fouchard, Audrey‐Anne;
Corcia, Philippe;
Allais, Christine;
Blasco, Helene;
De Toffol, Bertrand;
Maillot, François

Publication type:

Letter to the Editor

Asian G6PD-Mahidol Reticulocytes Sustain Normal Plasmodium Vivax Development.

Published in:

2017

By:

Bancone, Germana;
Malleret, Benoit;
Suwanarusk, Rossarin;
Chowwiwat, Nongnud;
Chu, Cindy S.;
McGready, Rose;
Rénia, Laurent;
Nosten, François;
Russell, Bruce

Publication type:

journal article

Combined Methylmalonic Acidemia with Hyperhomocysteinemia cblC Type 1: A Rare and Treatable Cause for Pediatric Cerebral Venous Sinus Thrombosis.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 1, p. 25, doi. 10.4103/jpn.jpn_47_23

By:

Viswanathan, Lakshminarayanapuram Gopal;
Seshagiri, Doniparthi V.;
Nagappa, Madhu;
Bharath, Rose Dawn;
Sinha, Sanjib

Publication type:

Article

A Cause of Refractory Seizures: Fumarase Deficiency.

Published in:

Journal of Pediatric Neurosciences, 2023, v. 18, n. 2, p. 172, doi. 10.4103/jpn.JPN_105_21

By:

Yekedüz, Merve Koç;
Doğulu, Neslihan;
Öncül, Ümmühan;
Köse, Engin;
Ünal, Özlem;
Eminoğlu, Fatma Tuba

Publication type:

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

Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 2, p. 218, doi. 10.4103/jpn.JPN_44_17

By:

Kumar, Sumant;
Offiong, Eniang E.;
Sangita, Sweta;
Hussain, Nahin

Publication type:

Article

Actual insights into treatable inborn errors of metabolism causing epilepsy.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 13, doi. 10.4103/JPN.JPN_160_16

By:

Mastrangelo, Mario

Publication type:

Article

Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis.

Published in:

Journal of Pediatric Neurosciences, 2014, v. 9, n. 1, p. 33, doi. 10.4103/1817-1745.131480

By:

Chittem, Lakshmanarao;
Bhattacharjee, Suchanda;
Ranganath, Prajnya

Publication type:

Article

Transient ischemic attack in a child with homocystinuria.

Published in:

2012

By:

Kumar, K. Jagadish;
Harsha, S.;
Manjunath, V. G.;
Mamatha, S.

Publication type:

Letter

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.

Published in:

Ulster Medical Journal, 2010, v. 79, n. 3, p. 114

By:

Donnelly, Deirdre E.;
McConnell, Vivienne;
Paterson, Anne;
Morrison, Patrick J.

Publication type:

Article

Inborn Errors of Immunity: how to diagnose them?

Published in:

Jornal de Pediatria, 2021, v. 97, p. S84, doi. 10.1016/j.jped.2020.11.007

By:

Sevciovic Grumach, Anete;
Simões Goudouris, Ekaterini

Publication type:

Article

Maple syrup urine disease in Brazil: a panorama of the last two decades.

Published in:

Jornal de Pediatria, 2015, v. 91, n. 3, p. 292, doi. 10.1016/j.jped.2014.08.010

By:

Herbera, Silvani;
Schwartz, Ida Vanessa D.;
Nalin, Tatiéle;
Oliveira Netto, Cristina Brinkmann;
Simon Camelo Junior, José;
Lúcia Santos, Mara;
Marques Ribeiro, Erlane;
Schüler-Faccini, Lavinia;
de Souza, Carolina Fischinger Moura

Publication type:

Article

Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Published in:

2024

By:

Khan, Aliya A.;
Brandi, Maria Luisa;
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;
Linglart, Agnes

Publication type:

Correction Notice

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

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Published in:

Osteoporosis International, 2024, v. 35, n. 3, p. 431, doi. 10.1007/s00198-023-06844-1

By:

Khan, Aliya A.;
Brandi, Maria Luisa;
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;
Linglart, Agnes

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

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