Results 201 to 210 of about 120,158 (339)

Elements of genetic counseling for inborn errors of metabolism

, 2019
Natalie Beck, Carolyn Applegate
openalex   +2 more sources

Multi-Omics Characterization of a Novel <i>SSR4</i> Variant in Congenital Disorders of Glycosylation. [PDF]

Metabolites
Abu Bakar N, Hamzan NI, Majawit EM, Ahmad Ridzuan SN, Hassan NH, Habib A, Ngu LH.   +6 more
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  

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Özketen AÇ, Kılıç M.   +3 more
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Metabolic considerations of the portal circulation [PDF]

, 1988
Starzl, TE
core  

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

Chavoshzadeh, Zahra, Fallah, Shahrzad, Zeinali, Vahide, Sharafian, Samin, Delavari, Samaneh, Mesdaghi, Mehrnaz, Djidjik, Reda, Belaid, Brahim, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Genel, Ferah, Gulez, Nesrin, Baris, Safa, Ozen, Ahmet, Elif, Karakoc-aydiner, Kiykim, Ayça, Meric, Zeynep, Kutukculer, Necil, Aygun, Ayse, Aksu, Guzide, Karaca, Neslihan Edeer, Geyik, Mehmet, Keles, Sevgi, Reisli, Ismail, Nail Guner, Sukru, Boukari, Rachida, Hakem, Saliha, Belbouab, Reda, Barbouche, Mohamed-Ridha, et al   +30 more
openalex   +1 more source

Birth Asphyxia: Risk Factors, Complications, and Outcomes in Neonates Admitted at a Tertiary Care Center in Gujarat, India. [PDF]

Cureus
Soni H, Pandya N, Soni P, Soni S.
europepmc   +1 more source

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

Liver transplantation for biliary atresia [PDF]

, 1987
Esquivel, CO, Starzl, TE
core