P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases

P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases

Saved in:

Bibliographic Details
Main Authors:	Elizabeth Null, Erika Beckman, Christina Lam
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425009732
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Le Poinçonnet (Indre). Forêt de Châteauroux – Ferrier F090
by: Solène Lacroix
Published: (2020-12-01)

Abstract 090: Delayed Cerebral Vasculopathy as a Complication of Pneumococcal Meningitis
by: Zaid R. Najdawi, et al.
Published: (2023-11-01)

Spectral characterization of Quillaja saponaria (Mol.)
by: T. Acuña, et al.
Published: (2016-12-01)

Pembuatan Kompos dari Limbah Pasar Pagi Menggunakan Kombinasi Aktivator EM4, Mol Jeroan Ikan, dan Mol Bonggol Pisang
by: Putri Rahayu, et al.
Published: (2024-08-01)

Gourd, Cucuzzi—Lagenaria siceraria (Mol.) Standl.
by: James M. Stephens
Published: (2003-05-01)

Gourd, Bottle—Lagenaria siceraria (Mol.) Standl.
by: James M. Stephens
Published: (2003-05-01)

11th Immunotherapy of Cancer conference (ITOC): A meeting report
by: Stefanos Michaelides, et al.
Published: (2025-12-01)

n+/p+ GaN and n+/p+ Al0.10Ga0.90N tunnel junctions: a promising alternative for hole injection in deep ultraviolet light-emitting diodes
by: Jamshad Bashir, et al.
Published: (2025-04-01)

Structure property relations in hot pressed 4.4 mol% calcia stabilized zirconia
by: Frank Kern, et al.
Published: (2024-12-01)

Comparative analysis of composting with ecoenzymes and bioactivator MOL based on parameters of pH, temperature, and water content
by: Sumiyati Sri, et al.
Published: (2025-01-01)

Cytotoxicity and biocompatibility of high mol% yttria containing zirconia
by: Gulsan Ara Sathi Kazi, et al.
Published: (2020-11-01)

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
by: Guillaume Lettre, et al.
Published: (2011-02-01)

Se busca una magnitud para la unidad mol
by: Julio José Andrade-Gamboa, et al.
Published: (2006-01-01)

MolAnchor method for explaining compound predictions based on substructures
by: Alec Lamens, et al.
Published: (2024-12-01)

Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
by: Erica Wee, et al.
Published: (2023-01-01)

EP-090 - UM DESFECHO FATAL DA COINFECÇÃO MYCOBACTERIUM MUCOGENICUM E MYCOBACTERIUM TUBERCULOSIS EM PACIENTE IMUNOCOMPETENTE: UM RELATO DE CASO
by: Marcela Simaro Gomes, et al.
Published: (2024-10-01)

Conference report: 15th National Family Practitioners Conference, 11-12 May 2012
by: Bob Mash
Published: (2012-06-01)

ngx-mol-viewers: Angular components for interactive molecular visualization in bioinformatics
by: Damiano Clementel, et al.
Published: (2025-06-01)

DFusMol: predicting molecular properties based on dual-channel attention
by: Xuan Liu, et al.
Published: (2025-07-01)

In vitro culture of Quillaja saponaria Mol. (Soap-bark Tree), Rosaceae
by: M. Jordan, et al.
Published: (2004-01-01)

Estudio anatómico del Borus Strophocheilus lorentzianus (Doer.) (Mol. Pulm.)
by: María Isabel Hylton Scott

Organ donation and transplantation in the Russian Federation in 2018. 11th report of the Registry of the Russian Transplant Society
by: S. V. Gautier, et al.
Published: (2019-10-01)

Token-Mol 1.0: tokenized drug design with large language models
by: Jike Wang, et al.
Published: (2025-05-01)

PERBANDINGAN BERBAGAI MIKROORGANISME LOKAL (MOL) PADA PROSES PENGOMPOSAN SECARA ANAEROBIK
by: Novitasari Kamarullah, et al.
Published: (2022-01-01)

REPORT FROM THE 4TH CURATORIAL CONGRESS
by: Rafał Skręt
Published: (2025-03-01)

Bilateral 11th rib disarticulation and resection for chronic rib pain: A case reportCentral Message
by: Garrett M. Cail, BS, et al.
Published: (2022-10-01)

Report on the Russian National Cardiology Congress and the IX Assembly of Russian cardiologists, October 11–13th 2011
by: article Editorial
Published: (1970-01-01)

REPORT ON THE RUSSIAN NATIONAL CARDIOLOGY CONGRESS AND THE IX ASSEMBLY OF RUSSIAN CARDIOLOGISTS, OCTOBER 11–13TH 2011
Published: (2011-10-01)

Six-Month CTS Update Report
by: Dennis Bowie
Published: (2004-01-01)

Effect of the Precipitating Agent on the Synthesis and Sintering Behavior of 20 mol% Sm-Doped Ceria
by: Luca Spiridigliozzi, et al.
Published: (2016-01-01)

MolNexTR: a generalized deep learning model for molecular image recognition
by: Yufan Chen, et al.
Published: (2024-12-01)

ExoMolHR: A Relational Database of Empirical High-resolution Molecular Spectra
by: Jingxin Zhang, et al.
Published: (2025-01-01)

Intraoral Lipoma on the Palate of an 11-Year-Old Patient: A Case Report
by: Vasileios Zisis, et al.
Published: (2025-02-01)

Dual band angle insensitive metamaterial absorber with MgxCa(0.90−x)Ni0.10Fe2O4 based novel microwave flexible substrate for electromagnetic energy harvesting application
by: Md Shakibul Hasan, et al.
Published: (2025-02-01)

Analysis of the accessibility of people with physical deficiency in the schools of Chapecó-SC and the role of physiotherapist in the school setting
by: emanuela Cerutti Gallo, et al.
Published: (2011-04-01)

Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation
by: Catarina Andrade, et al.
Published: (2025-02-01)

Updated guidelines for the reporting of methods and statistical analyses
by: Philip M. Sedgwick
Published: (2024-01-01)

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review
by: Cybil S. Stingl, et al.
Published: (2020-01-01)

EpiMolBio: A novel user-friendly bioinformatic program for genetic variability analysis
by: Roberto Reinosa, et al.
Published: (2025-01-01)

PENENTUAN JUMLAH MOL UDARA DALAM SELINDER DAN BOLA MENGGUNAKAN HUKUM BOYLE-MARIOTTE
by: MATHEUS SOUISA
Published: (2011-03-01)