Results 141 to 150 of about 757,181 (341)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

THE COMBINED EFFECTS OF THERMAL BURNS AND WHOLE-BODY X IRRADIATION. II. ANEMIA

, 1954
A. K. Davis, Edward L. Alpen, Glenn E. Sheline   +2 more
openalex   +2 more sources

The Treatment of Iron Deficiency Anemia [PDF]

, 1955
Daniel H. Coleman, A.R. Stevens, Clement A. Finch   +2 more
openalex   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Interarterial Coronary Anastomoses in the Human Heart, with Particular Reference to Anemia and Relative Cardiac Anoxia [PDF]

, 1951
Paul M. Zoll, Stanford Wessler, M. J. Schlesinger   +2 more
openalex   +1 more source

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome

American Journal of Hematology, EarlyView.
D. Mark Layton, Barbara J. Bain
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

SPLENIC ANEMIA IN A FIVE-YEAR-OLD BOY [PDF]

, 1909
Van Buren Knott
openalex   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

THE ANEMIA OF INFECTION. I. HYPOFERREMIA, HYPERCUPREMIA, AND ALTERATIONS IN PORPHYRIN METABOLISM IN PATIENTS 1 [PDF]

, 1946
G. E. Cartwright, Marjorie Lauritsen, Peter J.H. Jones, I. M. Merrill, M. M. Wintrobe   +4 more
openalex   +1 more source