Volume 22

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Molecular Genetics and Metabolism Reports
Volume 22

Molecular Genetics and Metabolism Reports

Volume 22

1

Response to “MLASA1 is a poly-phenic but not a di-phenic condition”

Woods, Jeremy, Cederbaum, Steven

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 416 KB

2020

2

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

Mardhiah, M., Azize, Nor Azimah Abdul, Yakob, Yusnita, Affandi, O., Hock, Ngu Lock, Rowani, M.R., Habib, Anasufiza

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 199 KB

2020

3

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome

Eisengart, J.B., King, K.E., Shapiro, E.G., Whitley, C.B., Muenzer, J.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 700 KB

2020

4

Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia

Susanto, ZaenalAdi, Siswandari, Wahyu, Rujito, Lantip

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 544 KB

2020

5

Gene interactions observed with the HDL-c blood lipid, intakes of protein, sugar and biotin in relation to circulating homocysteine concentrations in a group of black South Africans

du Plessis, Jacomina P., Melse-Boonstra, Alida, Zandberg, Lizelle, Nienaber-Rousseau, Cornelie

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 465 KB

2020

6

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Pajares, S., López, R.M., Gort, L., Argudo-Ramírez, A., Marín, J.L., González de Aledo-Castillo, J.M., García-Villoria, J., Arranz, J.A., Del Toro, M., Tort, F., Ugarteburu, O., Casellas, M.D., Fernán

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 856 KB

english, 2020

7

Liver involvement in patients with Gaucher disease types I and III

Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, M

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 738 KB

english, 2020

8

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 288 KB

english, 2020

9

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

Rohr, Fran, Kritzer, Amy, Harding, Cary O., Viau, Krista, Levy, Harvey L.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 495 KB

english, 2020

10

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Krämer, Johannes

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 440 KB

english, 2020

11

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

Wesół-Kucharska, Dorota, Kaczor, Magdalena, Pajdowska, Magdalena, Ehmke vel Emczyńska-Seliga, Ewa, Bogdańska, Anna, Kozłowski, Dariusz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Rokicki, Dariusz

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 196 KB

english, 2020

12

Newborn screening for Fabry disease in the western region of Japan

Sawada, Takaaki, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Momosaki, Ken, Inoue, Takahito, Tajima, Go, Sawada, Hirotake, Mastumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 1.85 MB

english, 2020

13

Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 329 KB

english, 2020

14

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

Stapleton, Molly, Kubaski, Francyne, Mason, Robert W., Shintaku, Haruo, Kobayashi, Hironori, Yamaguchi, Seiji, Taketani, Takeshi, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu,

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 1.09 MB

2020

15

ATAD3A variants manifest multisystematically in the brain, nerves, eyes, heart, liver, and skin

Finsterer, Josef, Aliyev, Rahim

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 416 KB

english, 2020

16

Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats

Janson, Juliette, Andersson, Gudrun, Bergquist, Lars, Eriksson, Maria, Folgering, Joost H.A.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 807 KB

2020

17

The N370S/R496H genotype in type 1 Gaucher disease â Natural history and implications for pre symptomatic diagnosis and counseling

Zeid, Natasha, Stauffer, Chanan, Yang, Amy, Naik, Hetanshi, Fierro, Luca, Ganesh, Jaya, Balwani, Manisha

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 173 KB

2020

18

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 1.63 MB

2020

19

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

Eisengart, J.B., King, K.E., Shapiro, E., Whitley, C.B., Muenzer, J.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 347 KB

english, 2020

20

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2â¯year prospective study

KrÃ¤mer, Johannes

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 909 KB

english, 2020

21

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Azevedo, Olga, Gago, Miguel F., Miltenberger-Miltenyi, Gabriel, Robles, Ana Raquel, Costa, Maria AntÃ³nia, Pereira, Olga, Vide, Ana Teresa, Castelo Branco, GonÃ§alo, SimÃµes, SÃ³nia, GuimarÃ£es, Maria

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 2.44 MB

english, 2020

22

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 667 KB

2020

23

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

Peoc'h, Katell, Damaj, LÃ©na, Pelletier, Romain, LefÃ¨vre, Charles, Dubourg, ChristÃ¨le, Denis, Marie-Christine, Bendavid, Claude, Odent, Sylvie, Moreau, Caroline

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 259 KB

2020

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