Results 231 to 240 of about 145,125 (343)

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Is it time for the A/I (allergist/immunologist) to embrace AI (artificial intelligence) in diagnosis and treatment of the inborn errors of immunity? [PDF]

Allergy Asthma Proc
Bellanti JA.
europepmc   +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core  

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights. [PDF]

Life (Basel)
Napiorkowska-Baran K, Cofta S, Treichel P, Tykwinska M, Lis K, Matyja-Bednarczyk A, Szymczak B, Szota M, Slawatycki J, Kulakowski M, Bartuzi Z.   +10 more
europepmc   +1 more source

Metabolic considerations of the portal circulation [PDF]

, 1988
Starzl, TE
core  

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function. [PDF]

J Clin Invest
Beliën J, De Visscher A, Pillay B, Wouters M, Kienapfel V, Bernaerts E, Mitera T, Berghmans N, Dubois B, Moens L, Matthys P, Meyts I.   +11 more
europepmc   +1 more source