Volume 7

Main
Molecular Genetics and Metabolism Reports
Volume 7

Molecular Genetics and Metabolism Reports

Volume 7

1

Newborn screening for congenital adrenal hyperplasia in New York State

Pearce, Melissa, DeMartino, Lenore, McMahon, Rebecca, Hamel, Rhonda, Maloney, Breanne, Stansfield, Daniele-Marisa, McGrath, Emily C., Occhionero, Amanda, Gearhart, Adam, Caggana, Michele, Tavakoli, No

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 429 KB

english, 2016

2

Nuclear tristetraprolin acts as a corepressor of multiple steroid nuclear receptors in breast cancer cells

Barrios-García, Tonatiuh, Gómez-Romero, Vania, Tecalco-Cruz, Ángeles, Valadéz-Graham, Viviana, León-Del-Río, Alfonso

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 890 KB

english, 2016

3

Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI

Ahmed, Alia, Shapiro, Elsa, Rudser, Kyle, Kunin-Batson, Alicia, King, Kelly, Whitley, Chester B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 173 KB

english, 2016

4

MELAS syndrome due to the m.3291T>C mutation

Finsterer, Josef, Zarrouk-Mahjoub, Sinda

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 131 KB

english, 2016

5

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Wang, Chung-Hsing, Chien, Yin-Hsiu, Wang, Yu-Mei, Tsai, Fuu-Jen, Chou, Yen-Yin, Lin, Shio Jean, Pan, Hui-Ping, Niu, Dau-Ming, Hwu, Wuh-Liang, Ke, Yu-Yuan, Lin, Shua

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 298 KB

english, 2016

6

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 470 KB

english, 2016

7

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 219 KB

english, 2016

8

Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

Chaudhary, Spandan, Dhawan, Dipali, Bagali, Prashanth G., S.Chaudhary, Pooja, Chaudhary, Abhinav, Singh, Sanjay, Vudathala, Srinivas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 214 KB

english, 2016

9

Relationship between age and white matter integrity in children with phenylketonuria

Wesonga, Erika, Shimony, Joshua S., Rutlin, Jerrel, Grange, Dorothy K., White, Desiree A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 146 KB

english, 2016

10

Holocarboxylase synthetase deficiency pre and post newborn screening

Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 158 KB

english, 2016

11

Double trouble progressive external ophthalmoplegia and Huntington's disease

Finsterer, Josef, Zarrouk-Mahjoub, Sinda

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

12

Unusual recovery of respiratory chain complex-III deficiency upon G-tube feeding and a cocktail

Finsterer, Josef, Zarrouk-Mahjoub, Sinda

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

13

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Kraj

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 1010 KB

english, 2016

14

The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

Mashima, Ryuichi, Sakai, Eri, Tanaka, Misa, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

15

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

Filosto, Massimiliano, Santorelli, Filippo M.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

16

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

Shapiro, Elsa G., Rudser, Kyle, Ahmed, Alia, Steiner, Robert D., Delaney, Kathleen A., Yund, Brianna, King, Kelly, Kunin-Batson, Alicia, Eisengart, Julie, Whitley, Chester B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 277 KB

english, 2016

17

Arrhythmias in MELAS syndrome

Finsterer, Josef, Zarrouk-Mahjoub, Sinda

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

18

Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency

Pliss, Lioudmila, Jatania, Urvi, Patel, Mulchand S.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 1.18 MB

english, 2016

19

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Heywood, Wendy E., Bliss, Emily, Mills, Philippa, Yuzugulen, Jale, Carreno, Gabriela, Clayton, Peter T., Muntoni, Francesco, Worthington, Viki C., Torelli, Silvia, Sebire, Neil J., Mills, Kevin, Grune

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

20

A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

Mashima, Ryuichi, Tanaka, Misa, Sakai, Eri, Nakajima, Hidenori, Kumagai, Tadayuki, Kosuga, Motomichi, Okuyama, Torayuki

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 332 KB

english, 2016

21

Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T>C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2]

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 157 KB

english, 2016

22

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

Rush, Eric T., Goodwin, Jennifer L., Braverman, Nancy E., Rizzo, William B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 143 KB

english, 2016

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски