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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/28275552/dietary-practices-in-isovaleric-acidemia-a-european-survey
#1
A Pinto, A Daly, S Evans, M F Almeida, M Assoun, A Belanger-Quintana, S Bernabei, S Bollhalder, D Cassiman, H Champion, H Chan, J Dalmau, F de Boer, C de Laet, A de Meyer, A Desloovere, A Dianin, M Dixon, K Dokoupil, S Dubois, F Eyskens, A Faria, I Fasan, E Favre, F Feillet, A Fekete, G Gallo, C Gingell, J Gribben, K Kaalund-Hansen, N Horst, C Jankowski, R Janssen-Regelink, I Jones, C Jouault, G E Kahrs, I L Kok, A Kowalik, C Laguerre, S Le Verge, R Lilje, C Maddalon, D Mayr, U Meyer, A Micciche, M Robert, J C Rocha, H Rogozinski, C Rohde, K Ross, I Saruggia, A Schlune, K Singleton, E Sjoqvist, L H Stolen, A Terry, C Timmer, L Tomlinson, A Tooke, K Vande Kerckhove, E van Dam, T van den Hurk, L van der Ploeg, M van Driessche, M van Rijn, A van Teeffelen-Heithoff, A van Wegberg, C Vasconcelos, H Vestergaard, I Vitoria, D Webster, F J White, L White, H Zweers, A MacDonald
BACKGROUND: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. AIM: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014). METHODS: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28275551/combination-of-klinefelter-syndrome-and-celiac-disease-a-case-report
#2
Ahmed Ramiz Baykan
Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was concurrently diagnosed with Klinefelter syndrome and celiac disease.
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28271047/pretreatment-cognitive-and-neural-differences-between-sapropterin-dihydrochloride-responders-and-non-responders-with-phenylketonuria
#3
Zoë Hawks, Joshua Shimony, Jerrel Rutlin, Dorothy K Grange, Shawn E Christ, Desirée A White
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligence and white matter integrity prior to treatment with BH4 in 13 subsequent BH4 responders with PKU, 16 subsequent BH4 non-responders with PKU, and 12 healthy controls...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28243577/evaluation-of-impact-of-anti-idursulfase-antibodies-during-long-term-idursulfase-enzyme-replacement-therapy-in-mucopolysaccharidosis-ii-patients
#4
R Giugliani, P Harmatz, S A Jones, N J Mendelsohn, A Vellodi, Y Qiu, C J Hendriksz, S Vijayaraghavan, D A H Whiteman, A Pano
OBJECTIVES: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect of idursulfase-specific antibody generation on treatment safety (via infusion-related adverse events [IRAEs]) and pharmacodynamics (via urinary glycosaminoglycans [uGAGs]). METHODS: Male patients ≥ 5 years, enrolled in HOS regardless of idursulfase treatment status were eligible...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28243576/phenotypic-heterogeneity-of-a-compound-heterozygous-sucla2-mutation
#5
Gerard T Berry
No abstract text is available yet for this article.
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28443237/the-clinical-heterogeneity-of-late-onset-melas
#6
H K Atwal, J Gass, P R Blackburn, P S Atwal
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#7
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28417071/twenty-novel-mutations-in-bckdha-bckdhb-and-dbt-genes-in-a-cohort-of-52-saudi-arabian-patients-with-maple-syrup-urine-disease
#8
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I Tahir, Nouf S Al-Numair, Mohamed H Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the BCKHDA, BCKDHB and DBT genes...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28377889/long-term-cognitive-functioning-in-individuals-with-tyrosinemia-type-1-treated-with-nitisinone-and-protein-restricted-diet
#9
María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello
INTRODUCTION: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairment in treated patients exist. AIMS: Describe long-term neurocognitive outcome individuals with HT1 treated with nitisinone and protein restricted diet...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28377888/chronic-intestinal-pseudo-obstruction-did-you-search-for-lysosomal-storage-diseases
#10
J Politei, C Durand, A B Schenone, A Torres, J Mukdsi, B L Thurberg
Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in two unrelated patients with Fabry disease and the possible explanation of a direct relation of these two disorders. In Fabry disease, gastrointestinal symptoms occur in approximately 70% of male patients, but the frequency ranges from 19% to 69% in different series...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28377887/defective-myelination-in-mice-harboring-hypomyelinating-leukodystrophy-associated-hspd1-mutation
#11
Yuki Miyamoto, Kazuko Kawahara, Tomohiro Torii, Junji Yamauchi
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28316933/letter-to-the-editors-concerning-divergent-clinical-outcomes-of-alphaglucosidase-enzyme-replacement-therapy-in-two-siblings-with-infantile-onset-pompe-disease-treated-in-the-symptomatic-or-pre-symptomatic-state-by-takashi-m-et-al
#12
Rita Ortolano, Federico Baronio, Riccardo Masetti, Arcangelo Prete, Alessandra Cassio, Andrea Pession
No abstract text is available yet for this article.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224085/authors-reply-clozapine-for-mitochondrial-psychosis
#13
Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224084/low-blood-heteroplasmy-rate-may-cause-late-onset-melas
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224083/comparative-genomic-analysis-of-eutherian-kallikrein-genes
#15
Marko Premzl
The present study made attempts to update and revise eutherian kallikrein genes implicated in major physiological and pathological processes and in medical molecular diagnostics. Using eutherian comparative genomic analysis protocol and free available genomic sequence assemblies, the tests of reliability of eutherian public genomic sequences annotated most comprehensive curated third party data gene data set of eutherian kallikrein genes including 121 complete coding sequences among 335 potential coding sequences...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#16
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28154797/sex-specific-effects-of-serum-sulfate-level-and-slc13a1-nonsense-variants-on-dhea-homeostasis
#17
Christina G Tise, Leslie E Anforth, Albert E Zhou, James A Perry, Patrick F McArdle, Elizabeth A Streeten, Alan R Shuldiner, Laura M Yerges-Armstrong
CONTEXT: Sulfate is critical in the biotransformation of multiple compounds via sulfation. These compounds include neurotransmitters, proteoglycans, xenobiotics, and hormones such as dehydroepiandrosterone (DHEA). Sulfation reactions are thought to be rate-limited by endogenous sulfate concentrations. The gene, SLC13A1, encodes the sodium-sulfate cotransporter NaS1, responsible for sulfate (re)absorption in the intestines and kidneys. We previously reported two rare, non-linked, nonsense variants in SLC13A1 (R12X and W48X) associated with hyposulfatemia (P = 9 × 10(- 20))...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28138430/nd2-mutation-with-minimal-coenzyme-q-responsive-manifestations
#18
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28127531/prevalence-of-adenylosuccinate-lyase-deficiency-based-on-aggregated-exome-data
#19
Carlos R Ferreira
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28119823/pilot-study-of-the-safety-and-effect-of-adalimumab-on-pain-physical-function-and-musculoskeletal-disease-in-mucopolysaccharidosis-types-i-and-ii
#20
Lynda E Polgreen, Alicia Kunin-Batson, Kyle Rudser, Richard K Vehe, Jeanine J Utz, Chester B Whitley, Patricia Dickson
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness, physical dysfunction, and short stature. Tumor necrosis factor - alpha (TNF-α) is elevated in individuals with MPS I and II and associated with pain and physical dysfunction. Therefore, we evaluated the safety and effects of the TNF-α inhibitor adalimumab in patients with MPS I and II in a 32-week, randomized, double blind, placebo-controlled, crossover study of adalimumab at a dose of 20 mg (weight 15-<30 kg) or 40 mg (weight ≥ 30 kg) administered subcutaneously every other week or saline placebo for 16 weeks...
March 2017: Molecular Genetics and Metabolism Reports
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