Results 251 to 260 of about 2,257,975 (340)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience. [PDF]

Front Nutr
Tosi M, Tagi VM, Colombo A, Cecchini A, Zobele M, Montanari C, Ferraro S, Bosetti A, Bonaventura E, Bruschi F, De Zan D, Fiore G, Cereda C, Zuccotti G, Verduci E.   +14 more
europepmc   +1 more source

A Thin Layer Chromatographic Method for Use in Neonatal Screening to Detect Excess Amino Acidaemia [PDF]

, 1972
J. T. Ireland, Ruth A. Read
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow. [PDF]

Int J Neonatal Screen
Donge M, Marie S, Pochet A, Marcelis L, Luis G, Boemer F, Prouteau C, Mesli S, Cuykx M, Nguyen-Khoa T, Guénet D, Empain A, Barth M, Dauriat B, Laroche-Raynaud C, De Laet C, Verloo P, Jonckheere AI, Schiff M, Nassogne MC, Dewulf JP.   +20 more
europepmc   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Rare Variants of the SMN1 Gene Detected during Neonatal Screening. [PDF]

Genes (Basel)
Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O.   +11 more
europepmc   +1 more source

The use of transgenic animals for xenotransplantation: An update

Animal Models and Experimental Medicine, EarlyView.
One way to produce genetically modified pigs is to use somatic cell nuclear transfer (SCNT). This procedure involves removing the metaphase plate from a mature oocyte using micromanipulation and then transferring the modified nucleus from the donor somatic cell to the oocyte.
Julia Motławska, Ana Amaral, Marta Cerveira‐Pinto, Paweł Kordowitzki   +3 more
wiley   +1 more source

Neonatal hearing screening

, 1970
Nasima Akhtar, Pran Gopal Datta, Md Alauddin, Nazma Kamal   +3 more
openalex   +2 more sources

Radiation emergency medical countermeasures: Current formulary, identified gaps, and future approaches

Animal Models and Experimental Medicine, EarlyView.
Current radiation medical countermeasures primarily focus on hematopoietic acute radiation syndrome (H‐ARS) using agents like granulocyte colony‐stimulating factor (G‐CSF), granulocyte‐macrophage colony‐stimulating factor (GM‐CSF), and romiplostim, alongside treatments for internal contamination (Prussian blue, diethylenetriamine pentaacetate [DTPA ...
Wen‐Bing Ma, Rong‐Hua Yin, Guang‐Ming Ren, Yin Zhang, Li‐Juan Li, Wei Liu, Ting Chen, Wei Zhou, Mian Zu, Rong‐Ling Yin, Xin‐Di Shi, Lei Wang, Xiao‐Ming Yang   +12 more
wiley   +1 more source