Results 221 to 230 of about 3,094,935 (306)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Understanding knowledge and practices of nutritional supplements in the Eastern Province of Saudi Arabia. [PDF]

J Family Community Med
Gari DM, Aljarrash HA, Alkhamis MH, Alqasim MR, Alyousef HA, Aldahan MA, Alayuob SH, Almahozi HR, Alsaud AA, Alzaher HN, Shafey MM.   +10 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Hidden burdens: The dual burden of subclinical iron deficiency and hemoglobinopathies in afro-descendant populations of Colombia's Pacific coast: A public health concern. [PDF]

J Public Health Res
Marquez B Y, Castillo B M, Mora B AI, Oliveros R AL, Castillo L LF, Marquez B B, Bernal JE, Briceño Balcazar I.   +7 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Beriberi in Brazil: the historical constitution of a disease. [PDF]

Hist Cienc Saude Manguinhos
Magalhães SM.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]

J Inherit Metab Dis
Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martinelli D, Monti L, Spada M, Pietrobattista A, Dionisi-Vici C.   +13 more
europepmc   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

NUTRITION MANAGEMENT OF INFLAMMATORY BOWEL DISEASES: A CONSENSUS OF THE BRAZILIAN ORGANIZATION FOR CROHN'S AND COLITIS (GEDIIB). [PDF]

Arq Gastroenterol
Magro DO, Rossoni C, Rocha R, Sassaki LY, Imbrizi M, Tuma ISM, Blume CA, Matos CH, Yoshihara RNY, Vasconcelos MIL, Sato PHR, Cambi MPC, LA Bella CB, Azevedo MFC, Chebli JMF, Nagasako CK, Baima JP, Coy CSR, Kotze PG, Flores C, Saad-Hossne R, Vilela EG.   +21 more
europepmc   +1 more source