Results 61 to 70 of about 47,738 (314)

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

Desnutrición en prescolares de familias migrantes Malnutrition in preschool children of migrant families

Salud Pública de México, 1998
Objetivo. Comparar la prevalencia de desnutrición entre prescolares migrantes y no migrantes. Material y métodos. Se seleccionaron al azar 160 infantes de 1-6 años de edad, de parvularios de muy alta marginación. Se excluyeron aquellos con malformaciones
Georgina Mayela Núñez-Rocha, Magaly Bullen-Navarro, Blanca Cecilia Castillo-Treviño, Elizabeth Solís-Pérez   +3 more
doaj  

Nutritional Deficiencies in Children of the First 3 Years of Life, According to a Multicenter Study in Ukraine

Zdorovʹe Rebenka, 2015
Taking into account the fact that in Ukraine today there is not enough researches that summarize the data on the nutritional status of young children, the prevalence of eating disorders and lack of basic macro- and micronutrients in children, the ...
S.L. Nyankovsky, D.O. Dobriansky, O.S. Ivakhnenko, M.O. Yavorska, V.V. Zayets, O.M. Platonova, O.G. Shadrin, V.A. Klymenko, G.L. Solodovnik   +8 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Nutrición y desarrollo psicomotor durante el primer semestre de vida Nutrition and psichomotor development during the first six months of life

Salud Pública de México, 1998
Objetivo. Estudiar el desarrollo psicomotor de niños pequeños de una comunidad rural pobre y mal alimentada y relacionarlo con la alimentación y nutrición tanto de su madre como de ellos mismos. Material y métodos.
ADOLFO CHÁVEZ, HOMERO MARTÍNEZ, NOÉ GUARNEROS, LINDSAY ALLEN, GRETEL PELTO   +4 more
doaj  

"Pitfalls" of infants' immune systems and nutritional problems: what is the relationship? Questions and answers

Лечащий Врач
Introduction. Based on the peculiarities of the formation of the child's immune system, pediatricians are particularly concerned about infants, who have a tendency to generalization of infectious processes (viral and bacterial) and are characterized by ...
M. S. Savenkova
doaj   +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

La desnutrición infantil en el medio rural mexicano Children malnutrition in rural Mexico

Salud Pública de México, 1998
Objetivo. Conocer la situación nutricional de la población infantil del medio rural mexicano, comparándola con la situación previa y localizando las zonas más afectadas. Material y métodos. La muestra estuvo conformada por 38 232 familias, pertenecientes
ABELARDO AVILA-CURIEL, TERESA SHAMAH-LEVY, CARLOS GALINDO-GÓMEZ, GERARDO RODRÍGUEZ-HERNÁNDEZ, LINDA M BARRAGÁN-HEREDIA   +4 more
doaj  

COMMERCIAL BABY PORRIDGES IN NUTRITION OF INFANTS

Вопросы современной педиатрии, 2013
The article covers the issue of the most important product among additional food for infants — baby porridges. It includes historical data on usage of various cereal crops in human nutrition.
I. N. Zakharova, T. E. Borovik, L. L. Stepurina, O. V. Osipenko, N. G. Zvonkova, Yu. A. Dmitrieva, T. V. Bushueva, E. B. Machneva   +7 more
doaj   +1 more source