Works matching DE "INBORN errors of metabolism diagnosis"

Results: 365

Crohn's Disease Presenting as Metabolic Myopathy: A Case Report.

Published in:

2022

By:

George, Sabu;
Baby, Neena;
Varghese, Prasanth;
Joseph, Thalakottur;
George, Sabu Kunnathuparambil;
Joseph, Thalakottur Kuriakose

Publication type:

Case Study

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

Published in:

2020

By:

Vidhya Annapoorni, C;
Retnaswami, Chandra;
Mailankody, Pooja;
Katragadda, Pavan;
Pillai, Sivakumar;
Rangarajan, Anush;
Padmanabha, Hansashree;
Pendharkar, Hima;
Vidhya Annapoorni, C S;
Retnaswami, Chandra Sadanandavalli;
Pillai, Sivakumar Krishna

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

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

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

Proposing a clinical algorithm for better diagnosis of hypophosphatasia in resource-limiting situations.

Published in:

Osteoporosis International, 2022, v. 33, n. 12, p. 2479, doi. 10.1007/s00198-022-06480-1

By:

Sadhukhan, Sreyanko;
Mehta, Poonam;
Rajender, Singh;
Gupta, Sushil Kumar;
Chattopadhyay, Naibedya

Publication type:

Article

Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia.

Published in:

Osteoporosis International, 2022, v. 33, n. 2, p. 505, doi. 10.1007/s00198-021-06145-5

By:

Koga, M.;
Kinoshita, Y.;
Kato, H.;
Kobayashi, H.;
Shinoda, Y.;
Nangaku, M.;
Makita, N.;
Dahir, K. M.;
Ito, N.

Publication type:

Article

Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia.

Published in:

Osteoporosis International, 2021, v. 32, n. 9, p. 1815, doi. 10.1007/s00198-021-05885-8

By:

Garcia-Carretero, R.;
Olid-Velilla, M.;
Perez-Torrella, D.;
Torres-Pacho, N.;
Darnaude-Ortiz, M.-T.;
Bustamate-Zuloeta, A.-D.;
Tenorio, J.-A.

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

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

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

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006

By:

Klippel, Claire;
Park, Jiwoon;
Sandin, Sean;
Winstone, Tara M. L.;
Chen, Xue;
Orton, Dennis;
Singh, Aranjeet;
Hill, Jonathan D.;
Shahbal, Tareq K.;
Hamacher, Emily;
Officer, Brandon;
Thompson, John;
Duong, Phi;
Grotzer, Tim;
Hahn, Si Houn

Publication type:

Article

Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 4, doi. 10.3390/ijns11010004

By:

Khodadadi, Azam;
Nanbedeh, Saber;
Joodaki, Mahsa;
Therrell, Bradford L.;
Gilany, Kambiz

Publication type:

Article

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 23, doi. 10.3390/ijns10010023

By:

Belaramani, Kiran Moti;
Chan, Toby Chun Hei;
Hau, Edgar Wai Lok;
Yeung, Matthew Chun Wing;
Kwok, Anne Mei Kwun;
Lo, Ivan Fai Man;
Law, Terry Hiu Fung;
Wu, Helen;
Wong, Sheila Suet Na;
Lam, Shirley Wai;
Ha, Gladys Ha Yin;
Lau, Toby Pui Yee;
Wong, Tsz Ki;
Or, Venus Wai Ching;
Wong, Rosanna Ming Sum;
Ming, Wong Lap;
Chow, Jasmine Chi Kwan;
Yau, Eric Kin Cheong;
Fu, Antony;
Chong, Josephine Shuk Ching

Publication type:

Article

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 34, doi. 10.3390/ijns9030034

By:

Dijkstra, Allysa M.;
de Blaauw, Pim;
van Rijt, Willemijn J.;
Renting, Hanneke;
Maatman, Ronald G. H. J.;
van Spronsen, Francjan J.;
Maase, Rose E.;
Schielen, Peter C. J. I.;
Derks, Terry G. J.;
Heiner-Fokkema, M. Rebecca

Publication type:

Article

Secondary Reporting of G6PD Deficiency on Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 18, doi. 10.3390/ijns9020018

By:

Hoang, Stephanie C.;
Blumenschein, Pamela;
Lilley, Margaret;
Olshaski, Larissa;
Bruce, Aisha;
Wright, Nicola A. M.;
Ridsdale, Ross;
Christian, Susan

Publication type:

Article

Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20".

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 8, doi. 10.3390/ijns9010008

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20.

Published in:

2023

By:

Maase, Rose;
Jansen, Marleen E.;
Heijnen, Marie-Louise;
Dekkers, Eugenie

Publication type:

Letter

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 62, doi. 10.3390/ijns8040062

By:

Gelb, Michael H.;
Basheeruddin, Khaja;
Burlina, Alberto;
Chen, Hsiao-Jan;
Chien, Yin-Hsiu;
Dizikes, George;
Dorley, Christine;
Giugliani, Roberto;
Hietala, Amy;
Hong, Xinying;
Kao, Shu-Min;
Khaledi, Hamid;
Klug, Tracy;
Kubaski, Francyne;
Liao, Hsuan-Chieh;
Martin, Monica;
Manning, Adrienne;
Orsini, Joseph;
Peng, Yin;
Ranieri, Enzo

Publication type:

Article

Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 30, doi. 10.3390/ijns8020030

By:

Heather, Natasha;
Morgan, Lisa;
Knoll, Detlef;
Shore, Keith;
de Hora, Mark;
Webster, Dianne

Publication type:

Article

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 20, doi. 10.3390/ijns8010020

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017

By:

Veldman, Abigail;
Kiewiet, Mensiena B. G.;
Heiner-Fokkema, Margaretha Rebecca;
Nelen, Marcel R.;
Sinke, Richard J.;
Sikkema-Raddatz, Birgit;
Voorhoeve, Els;
Westra, Dineke;
Dollé, Martijn E. T.;
Schielen, Peter C. J. I.;
van Spronsen, Francjan J.

Publication type:

Article

Applications of Metabolomics to Precision Nutrition.

Published in:

Lifestyle Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1159/000518489

By:

LeVatte, Marcia;
Keshteli, Ammar Hassanzadeh;
Zarei, Parvin;
Wishart, David S.

Publication type:

Article

Familial carotenaemia and carotenoderma.

Published in:

Clinical & Experimental Dermatology, 2014, v. 39, n. 6, p. 771, doi. 10.1111/ced.12317

By:

Chattopadhyay, M.;
Pramanik, R.;
McGrath, J. A.;
Burrows, N. P.

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

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation.

Published in:

2009

By:

Esteban-Oliva, Dolors;
Pintos-Morell, Guillem;
Konrad, Martin

Publication type:

journal article

Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

Published in:

2005

By:

Unger, Sheila;
Paul, David A.;
Nino, Michelle C.;
McKay, Charles P.;
Miller, Stephen;
Sochett, Etienne;
Braverman, Nancy;
Clarke, Joe T. R.;
Cole, David E. C.;
Superti-Furga, Andrea

Publication type:

journal article

Acceptance of extended newborn screening: the problem of parental non-compliance.

Published in:

2004

By:

Sewell, Adrian C.;
Gebhardt, Boris;
Herwig, Jürgen;
Rauterberg, Ernst W.;
Herwig, Jürgen

Publication type:

journal article

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Published in:

2004

By:

Hoffmann, Georg F;
von Kries, Rüdiger;
Klose, Daniela;
Lindner, Martin;
Schulze, Andreas;
Muntau, Ania C;
Röschinger, Wulf;
Liebl, Bernhard;
Mayatepek, Ertan;
Roscher, Adelbert A

Publication type:

journal article

Recommended clinical evaluation of infants with an apparent life-threatening event. Consensus document of the European Society for the Study and Prevention of Infant Death, 2003.

Published in:

2004

By:

Kahn, André;
Kahn, André;
European Society for the Study and Prevention of Infant Death

Publication type:

journal article

A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?

Published in:

2000

By:

Broere, Daniel;
van Gemert, Wim G.;
Kneepkens, C. M. Frank;
Neele, Diana M.;
Manoliu, Radu A.;
Rauwerda, Jan A.;
van der Knaap, Marjo S.;
Broere, D;
van Gemert, W G;
Kneepkens, C M;
Neele, D M;
Manoliu, R A;
Rauwerda, J A;
van der Knaap, M S

Publication type:

journal article

Risk Factors for Pseudoaldosteronism with Rhabdomyolysis Caused by Consumption of Drugs Containing Licorice and Differences Between Incidence of These Conditions in Japan and Other Countries: Case Report and Literature Review.

Published in:

2014

By:

Yoshino, Tetsuhiro;
Yanagawa, Tatsuo;
Watanabe, Kenji

Publication type:

Journal Article

All that glitters is not gold! Neonatal acute liver failure and liver transplantation.

Published in:

Transplant Journal of Australasia, 2016, v. 25, n. 3, p. 6

By:

Jermyn, Vicki

Publication type:

Article

Hypoalkaline Phosphatemia Dental Type: A Case Report.

Published in:

Clinical Medicine Insights: Pediatrics, 2024, p. 1, doi. 10.1177/11795565241256615

By:

Liu, Weihua;
Min, Xiaoyang;
Wang, Hongli;
Lu, Qianqian;
Li, Lulu;
Chu, Haiping

Publication type:

Article

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations.

Published in:

Nutrients, 2024, v. 16, n. 1, p. 61, doi. 10.3390/nu16010061

By:

Carou-Senra, Paola;
Rodríguez-Pombo, Lucía;
Monteagudo-Vilavedra, Einés;
Awad, Atheer;
Alvarez-Lorenzo, Carmen;
Basit, Abdul W.;
Goyanes, Alvaro;
Couce, María L.

Publication type:

Article

Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.

Published in:

Nutrients, 2023, v. 15, n. 15, p. 3475, doi. 10.3390/nu15153475

By:

Garcia-Arenas, Dolores;
Barrau-Martinez, Blanca;
Gonzalez-Rodriguez, Arnau;
Llorach, Rafael;
Campistol-Plana, Jaume;
García-Cazorla, Angeles;
Ormazabal, Aida;
Urpi-Sarda, Mireia

Publication type:

Article

Antenatal diagnosis of achondroplasia.

Published in:

Bangladesh Journal of Medical Science, 2014, v. 13, n. 1, p. 84, doi. 10.3329/bjms.v13i1.17443

By:

Dhungel, K.;
Gupta, M. K.;
Ahmad, K.;
Ansari, S.;
Rauniyar, R. K.

Publication type:

Article

Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism.

Published in:

Neonatology (16617800), 2012, v. 102, n. 3, p. 203, doi. 10.1159/000339567

By:

Olischar, Monika;
Shany, Eilon;
Aygün, Canan;
Azzopardi, Denis;
Hunt, Rod W.;
Toet, Mona C.;
Hamosh, Ada;
de Vries, Linda S.;
Hellström-Westas, Lena;
Theda, Christiane

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

'Comorbidities--Eddey replies'.

Published in:

2005

By:

Eddey, Gary E

Publication type:

commentary

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Published in:

2008

By:

Stevenson, David A;
Carey, John C;
Coburn, Stephen P;
Ericson, Karen L;
Byrne, Janice L B;
Mumm, Steven;
Whyte, Michael P

Publication type:

journal article

Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism.

Published in:

BMC Oral Health, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12903-019-0978-z

By:

Hejlesen, Jane;
Underbjerg, Line;
Gjørup, Hans;
Sikjaer, Tanja;
Rejnmark, Lars;
Haubek, Dorte

Publication type:

Article