Results 191 to 200 of about 557,287 (304)

Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency. [PDF]

Endocrinol Diabetes Metab
Iemura R, Suzuki Y, Gau M, Orimoto R, Yamano H, Nakatani H, Kirino S, Saito Y, Adachi E, Tsuji-Hosokawa A, Kashimada K, Takasawa K.   +11 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Health worker training and day-1 feeding prescriptions for very low birth weight neonates: an interrupted time series study in two Kenyan hospitals. [PDF]

Front Health Serv
Kayiza A, Laigong P, Malla L, Wamalwa D, Irimu G.   +4 more
europepmc   +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

Differential Maternal Physiological Stress Responses During Rooming-In: High Stress in Newborn Sleeping versus Relief in Breastfeeding. [PDF]

Int J Womens Health
Lin HH, Lee WC, Chen CI, Lin HD, Tsai YL, Kang J, Yang CF, Chang HY.   +7 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants. [PDF]

Nutrients
Scaglione M, Calevo MG, Pessano S, Perri FN, Mariani S, Massirio P, Cassanello M, Perrone Donnorso M, Sondo E, Malova M, Schiaffino MC, Maghnie M, Ramenghi LA.   +12 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis. [PDF]

JIMD Rep
Kamarus Jaman N, Bernhardt I, Ward S, Hassall F, Nurse J, Lemonde H, Dalton RN, Champion M.   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source