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Browse Inborn errors of metabolism topic


1-54 out of 54 article(s)
Title Author Type Date Words
Etiological Evaluation of Congenital Hypothyroidism in Cases Referred from the National Screening Program. Tanyeri, Deniz; Anik, Ayse; Cengiz, Arzu; Polat, Yasemin Durum; Unuvar, Tolga; Anik, Ahmet Report Mar 1, 2021 3772
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment. Verma, Vishesh; Singh, R.K. Clinical report Dec 1, 2020 2615
Dubin-Johnson syndrome coexisting with glucose-6-phosphate dehydrogenase deficiency presenting after acute viral hepatitis. Clinical report Aug 14, 2020 1063
Succinate Dehydrogenase Complex: An Updated Review. Rasheed, Rizwan Haroon Al Mohamed; Tarjan, Gabor Report Dec 1, 2018 5532
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. Huang, Rongrong; Cathey, Sara; Pollard, Laura; Wood, Tim Disease/Disorder overview Dec 1, 2018 4973
Identifying suspected familial chylomicronemia syndrom. Rengarajan, Ronak; McCullough, Peter A.; Chowdhury, Anima; Tecson, Kristen M. Report Jul 1, 2018 3310
Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child. Kamal, Naglaa M.; Alghamdi, Hamed A.; Halabi, Abdulrahman; Alharbi, Abdullah O.; Rafque, Muhammad; A Clinical report Mar 1, 2018 1660
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor. Sozmen, Eser Yildirim; Dondurmaci, Meral; Ucar, Sema Kalkan; Coker, Mahmut Report Mar 1, 2018 2650
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria. Canda, Ebru; Kose, Melis; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Habif, Sara; Ka Report Mar 1, 2018 2832
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages. Olgac, Asburce; Tumer, Leyla; Ceylaner, Serdar; Biberoglu, Gursel; Hasanoglu, Alev Clinical report Mar 1, 2018 2075
Siblings with Ethylmalonic Encephalopathy: Case Report. Kasapkara, Cigdem Seher; Aksoy, Ayse; Polat, Emine; Kilic, Mustafa; Ceylaner, Serdar Clinical report Mar 1, 2018 1427
Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone. Yazici, Havva; Canda, Ebru; Er, Esra; Kilinc, Mehmet Arda; Ucar, Sema Kalkan; Karapinar, Bulent; Cok Clinical report Mar 1, 2018 1724
Baebies Announces CE Mark for SEEKER, an Innovative Newborn Screening Platform for Lysosomal Storage Diseases. Jul 31, 2017 565
A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl. Korkmaz, Huseyin Anil; Onay, Huseyin; Ozkinay, Ferda Clinical report Jun 1, 2017 256
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome. Ardissino, Gianluigi; Perrone, Michela; Tel, Francesca; Testa, Sara; Morrone, Amelia; Possenti, Ilar Clinical report Jan 1, 2017 1607
Sulfite oxidase deficiency. Hundallah, Khalid; Jabari, Moslah Oct 1, 2016 929
Seizures, Dystonia, and Spasms in a 14-Year-Old Child. Peake, Roy W.A. Aug 1, 2016 748
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene. Deeb, Asma; Al Suwaidi, Hana; Ibukunoluwa, Fakunle; Attia, Salima Case study Jun 1, 2016 3485
Sanfilippo syndrome may go un diagnosed if not picked up during well health visit. Jamaan, Alzahrani Mohammed; Abdullah, Alqahtani Adbullah; Alshehri, Dhafer Batti Report May 1, 2016 1123
Brain magnetic resonance imaging with bilateral hyperintensities in the Globus Pallidi. Burkett, Brian J.; Bennett, Andrea C.; Castillo-Jorge, Sarah; Garza-Garcia, Lorena; Palacios, Enriqu Clinical report Mar 1, 2016 1534
The role of adipokines in HIV lipodystrophy. Dragovic, Gordana Editorial Sep 1, 2015 389
Altered wheel running and exploratory activity in a mouse model of Tyrosinemia Type I. Macgregor, Gordon G.; Watkins, Timley; Coker, Sarah; Barnby, Beth; Mendenhall, Eric M. Brief article Apr 1, 2015 260
Newborn screening for lysosomal storage diseases. Gelb, Michael H.; Scott, C. Ronald; Turecek, Frantisek Report Feb 1, 2015 10318
Quantitative charge-tags for sterol and oxysterol analysis. Crick, Peter J.; Bentley, T. William; Abdel-Khalik, Jonas; Matthews, Ian; Clayton, Peter T.; Morris, Report Feb 1, 2015 5756
Ocular morbities associated with hyperhomocystenemia. Sowbhagya, H.N.; Kiran, Kumar L.; Kothari, Minal; Nikhil, Nivedhitha; Deepthi, U.S. Report Dec 29, 2014 1622
Corneal haze and peripheral corneal arcus in a young patient: lecithin-cholesterol acyltransferase deficiency/Genc hastada kornea bulanikligi ve periferik kornea arkusu: lesitin kolestrol aciltransferaz eksikligi. Mayali, Huseyin; Kilic, Saban; Cansiz, Cagdas; Turkoglu, Mehmet Sirin; Baser, Esin Fatma Clinical report Jul 1, 2014 917
Commentary. Chapman, Kimberly A. Oct 1, 2013 380
Commentary: although many inborn errors of metabolism (IEMs) present in the first few months of life. Kellogg, Mark D. Oct 1, 2013 491
Etiology and outcome of inborn errors of metabolism. Report Sep 30, 2013 3015
Interfamily marriages could be a major cause of Lysosomal Storage Disorders; Enzyme Replacement Therapy is the only specific treatment available for LSD. Report Sep 14, 2013 396
Oligosaccharide analysis in urine by MALDI-TOF mass spectrometry for the diagnosis of lysosomal storage diseases. Xia, Baoyun; Asif, Ghazia; Arthur, Leonard; Pervaiz, Muhammad A.; Li, Xueli; Liu, Renpeng; Cummings, Report Sep 1, 2013 6745
A comprehensive review of inborn errors of metabolism in paediatric age. Ramani, M.; Ranganath, D.; Husain, Kazi Wajid; Krishna, O.H. Radhika; Manojna, M.; Deshmukh, Puja; S Report Jul 15, 2013 2214
High-throughput assay of 9 lysosomal enzymes for newborn screening. Spacil, Zdenek; Tatipaka, Haribabu; Barcenas, Mariana; Scott, C. Ronald; Turecek, Frantisek; Gelb, M Report Mar 1, 2013 5066
Detection of inborn errors of metabolism using tandem mass spectrometry among high-risk Omani patients. Al Riyami, Sulaiman; Al Maney, Matar; Joshi, Surendra Nath; Bayoumi, Riad Report Nov 1, 2012 2808
Pycnodysostosis with the focus on clinical and radiographic findings. Barnard, Ben; Hiddema, Wim Case study Jun 1, 2012 1391
Neonatal screening for inborn errors of metabolism and congenital disorders. May 31, 2012 419
Angiochem and GlaxoSmithKline form collaboration to discover and develop treatments of lysosomal storage diseases. Disease/Disorder overview Feb 27, 2012 196
When to consider an inborn error of metabolism: an approach to paediatric neurometabolic disorders. Riordan, G T; Smuts, I Apr 1, 2011 1205
Investigation of inborn errors of metabolism by tandem mass spectrometry. Nagaraja, D. Abstract Nov 1, 2010 258
There's always hope. Mar 1, 2008 1137
An "Expression of Hope" from the afflicted. Brief article Feb 1, 2008 245
Amyloid tumor of the larynx associated with plasma cell infiltration: differential diagnosis. Maier, Wolfgang Dec 1, 2004 2452
Is galactosemia variant Tx overkill? Or necessary? Clinically benign, long-term risks unknown. Boschert, Sherry Jan 1, 2004 561
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Engelke, Udo F.H.; Liebrand-van Sambeek, Maria L.F.; De Jong, Jan G.N.; Leroy, Jules G.; Morava, Eva Report Jan 1, 2004 6455
Newborn screenings for errors of metabolism steadily growing: development of a uniform panel underway. Brunk, Doug Aug 1, 2003 733
Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Pitt, James J.; Eggington, Mary; Kahler, Stephen G. Nov 1, 2002 8027
Universal newborn screening. (Advertisement). Brief Article Jun 1, 2002 626
Newborn Screening and Parent Support Groups. Stagni, Kathy Oct 1, 2000 1515
Tandem Mass Spectrometry. Roe, Charles R.; Sweetman, Lawrence Sep 1, 2000 3451
What's New with Reye's Syndrome. Sep 1, 1999 160
Reye's Syndrome Nearly Gone. Statistical Data Included Jul 15, 1999 185
There is hope. Luker, Patricia Baccus; Luker, Calvin Jul 1, 1997 1224
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Rashed, Mohamed S.; Bucknall, Martin P.; Little, Douglas; Awad, Amin; Jacob, Minnie; Alamoudi, Moham Jul 1, 1997 9473
New warning for expectant PKU moms. Apr 1, 1989 298

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