Results 221 to 230 of about 45,424 (315)

Oncostatin M silence and neopeptide: the value of exploring patients with rare inherited bone marrow failure. [PDF]

J Clin Invest
Delafontaine S, Meyts I.
europepmc   +1 more source

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

, 2001
Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger, Adolf Mühl, M. Alessandri, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni   +8 more
openalex   +1 more source

Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge. [PDF]

Cureus
Kundavaram R, Kadiri H, Khurana U, Chaudhary NK, Dhingra B, Bargir U, Malik S.   +6 more
europepmc   +1 more source

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition [PDF]

, 2001
Jules G. Leroy, Raili Seppälä, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl   +8 more
openalex   +1 more source

Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings - the PIDCAP Project. [PDF]

J Clin Immunol
Rivière JG, Carot-Sans G, Piera-Jiménez J, de la Torre S, PIDCAP expert group, Cos X, Serra-Picamal X, Soler-Palacin P.   +7 more
europepmc   +1 more source

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]

, 2001
Allan Chiaratti de Oliveira, Amélia Miyashiro Nunes dos Santos, Ana María Martins, Vânia D’Almeida   +3 more
openalex   +1 more source

Editorial: Nutritional management of patients with inborn errors of metabolism. [PDF]

Front Nutr
Pedrón-Giner C, Aldamiz-Echevarria L, Couce ML.   +2 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source