Results 201 to 210 of about 45,424 (315)

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis [PDF]

, 1997
Sylvia Stöckler, Bart Marescau, P.R. De Deyn, J.M.F. Trijbels, F. Hanefeld   +4 more
openalex   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Comparison of Periventricular-Intraventricular Hemorrhage (IVH) Amongst Inborn and Outborn Low Birth Weight (LBW) Infants Born in the Milwaukee Area 1256 [PDF]

, 1998
Jeffery S. Garland, Colleen P. Alex, Deying Yu, Susanna M.H. Kannenberg, Richard A. Pircon   +4 more
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Neurological manifestations in an adult with phenylketonuria. [PDF]

Arch Med Sci
Sochań P, Białobrzewski M, Sochań PJ, Domitrz I.   +3 more
europepmc   +1 more source

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

, 1980
Jean L. Johnson, William R. Waud, K.V. Rajagopalan, M. Durán, F. A. Beemer, S.K. Wadman   +5 more
openalex   +1 more source