Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

2017 ◽  
Vol 92 (3) ◽  
pp. 306-317 ◽  
Author(s):  
L. Peña-Quintana ◽  
G. Scherer ◽  
M.L. Curbelo-Estévez ◽  
F. Jiménez-Acosta ◽  
B. Hartmann ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Type Ii ◽  
Novel Mutations ◽  
Tyrosinemia Type Ii

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation

2016 ◽  
Vol 58 (10) ◽  
pp. 1069-1072 ◽  
Author(s):  
Songul Gokay ◽  
Mustafa Kendirci ◽  
Pembe Soylu Ustkoyuncu ◽  
Fatih Kardas ◽  
Ayse Kacar Bayram ◽  
...  
Keyword(s):  
Unusual Presentation ◽  
Type Ii ◽  
Novel Mutations ◽  
Tyrosinemia Type Ii

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

2021 ◽  
Vol 43 (2) ◽  
pp. 115-121
Author(s):  
Thu Hien Nguyen ◽  
Ngoc-Lan Nguyen ◽  
Chi Dung Vu ◽  
Can Thi Bich Ngoc ◽  
Ngoc Khanh Nguyen ◽  
...  
Keyword(s):  
Type Ii ◽  
Novel Mutations ◽  
Primordial Dwarfism

Mucopolysaccaharidosis type II: Clinical, enzymatic, and ERT data and four novel mutations of eight cases

2013 ◽  
Vol 108 (2) ◽  
pp. S71
Author(s):  
Halise Önenli Mungan ◽  
Den Z. Kör ◽  
Sevcan Erdem ◽  
Sureya Soyüpak ◽  
S. Bel Ba Aran
Keyword(s):  
Type Ii ◽  
Novel Mutations

Tyrosinemia Type II in Two Cases Previously Reported as Richner-Hanhart Syndrome

Dermatology ◽  
1986 ◽  
Vol 173 (2) ◽  
pp. 66-74 ◽  
Author(s):  
Nicola Balato ◽  
Francesco Cusano ◽  
Giuseppe Lembo ◽  
Pietro Santoianni
Keyword(s):  
Type Ii ◽  
Tyrosinemia Type Ii ◽  
Hanhart Syndrome

Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

2020 ◽  
Vol 93 (1) ◽  
Author(s):  
Zahra Alizadeh ◽  
Susan Nabilou ◽  
Marzieh Mazinani ◽  
Shaghayegh Tajik ◽  
Amir Ali Hamidieh ◽  
...  
Keyword(s):  
Type Ii ◽  
Novel Mutations ◽  
Partial Albinism

Investigation of Fibril Forming Mechanisms of l-Phenylalanine and l-Tyrosine: Microscopic Insight toward Phenylketonuria and Tyrosinemia Type II

2017 ◽  
Vol 121 (7) ◽  
pp. 1533-1543 ◽  
Author(s):  
Debasis Banik ◽  
Sangita Kundu ◽  
Pavel Banerjee ◽  
Rupam Dutta ◽  
Nilmoni Sarkar
Keyword(s):  
Type Ii ◽  
Tyrosinemia Type Ii

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

Neurology ◽  
2006 ◽  
Vol 66 (5) ◽  
pp. 748-751 ◽  
Author(s):  
K. Coen ◽  
D. Pareyson ◽  
M. Auer-Grumbach ◽  
G. Buyse ◽  
N. Goemans ◽  
...  
Keyword(s):  
Autonomic Neuropathy ◽  
Type Ii ◽  
Novel Mutations
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