Results 241 to 250 of about 13,168,725 (351)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Challenging the myth: comparing early complications of native and periprosthetic distal femur fractures. The role of implant stability. [PDF]

Arch Orthop Trauma Surg
Lampert C, Faust L, Beckers G, Cavalcanti Kußmaul A, Holzapfel BM, Böcker W, Neuerburg C, Pachmann F.   +7 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

NHC-Stabilized Early Main Group Species: Reactivity and Emerging Catalysis. [PDF]

ACS Catal
Burnett S, Miller S, Murphy F, Weetman CE.   +3 more
europepmc   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Synthesis of a Zr/Sn/Al-SBA-15 catalyst for the conversion of glucose to lactic acid. [PDF]

RSC Adv
Jamil FM, Ramli A, Wei LJ, Borhan N.
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

The complete chloroplast genome and phylogenetic analysis of <i>Guilandina minax</i> (Hance) G. P. Lewis (Fabaceae). [PDF]

Mitochondrial DNA B Resour
Zhang Q, Liu B, Liang X, Gao K, Wang J.
europepmc   +1 more source

Implementing an Indigenous Research Methodology to Develop a Culturally Appropriate Survey and Yarning Protocol: Challenges With Retention of the Aboriginal Health, Ageing and Disability Workforce

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal staff play a vital part in improving culturally safe and effective services and supports for Aboriginal people. Research on the Aboriginal workforce helps advance a culturally safe environment for workers and Aboriginal people accessing health and community services. This study aims to identify the barriers and enablers to workforce
F. Talbot, J. Gilroy, J. Gwynn, K. Bulkeley, C. Alcorso, K. Gwynne, Rob Heard, Sarah Peter, A. Haines, M. Lincoln, B. Rambaldini   +10 more
wiley   +1 more source