Filters

Clear all

Expert Opinion

Plain Language Summary

Expert Review

Text Availability

Abstract

Full text

Free full text

Publication Types

Journal Article

Review

Research Support, Non-U.S. Gov't

Case Reports

Research Support, N.I.H., Extramural

Observational Study

Meta-Analysis

Systematic Review

Clinical Trial

Publication Year

From

Quick links

Individual year

2024

2023

2022

2021

2020

2019

2018

2016

2015

2013

2010

2009

2008

2007

Sort by:

selected

Print page

Email selected articles

Favourite selected articles

Create a NED Search Alert for this search

Save this search

Advanced Search

Run an advanced search

Results for
""X-Linked Intellectual Disability""[mesh_terms]

27 Results

Searching titles within these results

Current and potential new treatment strategies for creatine deficiency syndromes.

Gabriella Fernandes-Pires, Olivier Braissant

Molecular genetics and metabolism 2022;135(1):15-26

Free Full Text

Abstract

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

C Fons, A Arias, A Sempere, P Póo, M Pineda, A Mas, A López-Sala, J Garcia-Villoria, M A Vilaseca, L Ozaez, M Lluch, R Artuch, J Campistol, A Ribes

Molecular genetics and metabolism 2010;99(3):296-9

Full Text

Abstract

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Malene Mejdahl Nielsen, Esben Thade Petersen, Christina Dühring Fenger, Mette Cathrine Ørngreen, Hartwig Roman Siebner, Vincent Oltman Boer, Michal Považan, Allan Lund, Sabine Weller Grønborg, Trine Bjørg Hammer

Molecular genetics and metabolism 2023;140(3):107694

Free Full Text

Abstract

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

Myriam Abdennadher, Sara K Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Audrey Thurm, William Theodore, Judith S Miller, Forbes D Porter, Simona Bianconi

American journal of medical genetics. Part A 2024;194(2):337-345

Free Full Text

Abstract

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.

Song-Yu Yang, Xue-Ying He, David Miller

Molecular genetics and metabolism 2007;92(1-2):36-42

Full Text

Abstract

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Schaida Schirwani, Emma Wakeling, Kath Smith, Meena Balasubramanian

American journal of medical genetics. Part A 2019;176(5):1238-1244

Full Text

Abstract

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.

Evandro Ferrada, Tabea Wiedmer, Wen-An Wang, Fabian Frommelt, Barbara Steurer, Christoph Klimek, Sabrina Lindinger, Tanja Osthushenrich, Andrea Garofoli, Silvia Brocchetti, Samuel Bradberry, Jiahui Huang, Aidan MacNamara, Lia Scarabottolo, Gerhard F Ecker, Anders Malarstig, Giulio Superti-Furga

Journal of molecular biology 2024;436(2):168383

Free Full Text

Abstract

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek

Seminars in neurology 2015;34(3):350-6

Full Text

Abstract

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Yunhui Peng, Joy Norris, Charles Schwartz, Emil Alexov

International journal of molecular sciences 2016;17(1):77

Free Full Text

Abstract

Creatine transporter deficiency in two half-brothers.

Orly Ardon, Cristina Amat di San Filippo, Gajja S Salomons, Nicola Longo

American journal of medical genetics. Part A 2010;152A(8):1979-83

Full Text

Abstract

Disorder of thyroid hormone transport into the tissues.

Stefan Groeneweg, W Edward Visser, Theo J Visser

Best practice & research. Clinical endocrinology & metabolism 2018;31(2):241-253

Full Text

Abstract

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

Mary Dunbar, Sravan Jaggumantri, Michael Sargent, Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek

Molecular genetics and metabolism 2015;112(4):259-74

Full Text

Abstract

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

Monika Dezortova, Filip Jiru, Jan Petrasek, Vera Malinova, Jiri Zeman, Milan Jirsa, Milan Hajek

Magma (New York, N.Y.) 2009;21(5):327-32

Full Text

Abstract

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A Haas, Joo-Ran Kim, Leda E Lotspeich-Cole, Daniela Gasperikova, Thomas E Dever, Vera M Kalscheuer

Human mutation 2018;38(4):409-425

Free Full Text

Abstract

Creatine transporter deficiency in two adult patients with static encephalopathy.

A Sempere, C Fons, A Arias, P Rodríguez-Pombo, R Colomer, B Merinero, P Alcaide, A Capdevila, A Ribes, R Artuch, J Campistol

Journal of inherited metabolic disease 2013;32 Suppl 1():S91-6

Full Text

Abstract

Results: 1 – 15 / 27

Filters

Expert Opinion

Text Availability

Publication Types

Publication Year

Results for ""X-Linked Intellectual Disability""[mesh_terms]

Current and potential new treatment strategies for creatine deficiency syndromes.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.

HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Creatine transporter deficiency in two half-brothers.

Disorder of thyroid hormone transport into the tissues.

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Creatine transporter deficiency in two adult patients with static encephalopathy.

Results for
""X-Linked Intellectual Disability""[mesh_terms]