Works matching DE "INBORN errors of metabolism diagnosis"

Results: 369
    1
    2
    3

    Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 31, doi. 10.3390/ijns11020031
    By:
    • Berardo, Clarissa;
    • Vasco, Alessandra;
    • Mauri, Alessia;
    • Lucchi, Simona;
    • Cappelletti, Laura;
    • Saielli, Laura;
    • Rizzetto, Manuela;
    • Biganzoli, Davide;
    • Montrasio, Cristina;
    • Postorivo, Diana;
    • Pratiffi, Elisa;
    • Meta, Andrea;
    • Carelli, Stephana;
    • Amorosi, Alessandro;
    • Paci, Sabrina;
    • Cefalo, Graziella;
    • Furlan, Francesca;
    • Menni, Francesca;
    • Gasperini, Serena;
    • Crescitelli, Viola
    Publication type:
    Article
    4
    5

    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
    6
    7
    8
    9

    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

    Published in:
    Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
    By:
    • Alfonsi, Chiara;
    • Stephan-Otto, Christian;
    • Cortès-Saladelafont, Elisenda;
    • Palacios, Natalia Juliá;
    • Podzamczer-Valls, Inés;
    • Cruz, Nuria Gutiérrez;
    • Jiménez, María Rosario Domingo;
    • Micó, Salvador Ibáñez;
    • Vila, Miguel Tomás;
    • Jeltsch, Kathrin;
    • Hübschmann, Oya Kuseyri;
    • Opladen, Thomas;
    • Fragua, Ramón Velázquez;
    • Gómez, Teresa;
    • Fortuny, Oscar Alcoverro;
    • Jiménez, Inmaculada García;
    • Laso, Eduardo López;
    • Martínez, Ana Roche;
    • López, Jordi Muchart;
    • Garcia-Cazorla, Àngels
    Publication type:
    Article
    10
    11
    12
    13

    Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

    Published in:
    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2024, v. 5, n. 2, p. 205, doi. 10.1515/almed-2023-0102
    By:
    • Jasinge, Eresha;
    • Fernando, Mihika;
    • Indika, Neluwa-Liyanage Ruwan;
    • Ratnayake, Pyara Dilani;
    • Gamaathige, Nalin;
    • Ratnaranjith, Ratnanathan;
    • Schroeder, Sabine;
    • Jones, Patricia;
    • Volha, Skrahina;
    • Jayasena, Subhashinie;
    • Gunaratna, Anusha Varuni;
    • Bandara Ekanayake, Asitha Niroshana;
    • Rolfs, Arndt
    Publication type:
    Article
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25

    Systemic oxalosis in hyperoxaluria type 1.

    Published in:
    Rheumatology, 2017, v. 56, n. 3, p. 361, doi. 10.1093/rheumatology/kew380
    By:
    • Rodrigues, Marília;
    • Cardoso, José Carlos;
    • da Silva, José A. P.
    Publication type:
    Article
    26

    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
    27
    28
    29
    30

    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
    31
    32
    33
    34
    35
    36

    Hepatic Iron: Biopsy vs Imaging.

    Published in:
    American Journal of Gastroenterology (Springer Nature), 1999, v. 94, n. 11, p. 3107, doi. 10.1111/j.1572-0241.1999.3107a.x
    By:
    • Matamoros Jr., A.;
    • Thompson, Jon S.
    Publication type:
    Article
    37
    38
    39
    40
    41
    42

    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
    43
    44

    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
    45

    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
    46

    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
    47

    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
    48
    49

    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
    50