| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis
|
Wu, Aijia
|
|
|
40 |
C |
p.
|
artikel
|
| 2 |
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia
|
Daly, Anne
|
|
|
40 |
C |
p.
|
artikel
|
| 3 |
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test
|
Terracciano, Rosamaria
|
|
|
40 |
C |
p.
|
artikel
|
| 4 |
Assessing the lived experiences of females with phenylketonuria in their health management
|
Aronoff, Abigail
|
|
|
40 |
C |
p.
|
artikel
|
| 5 |
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy
|
Fiumara, Agata
|
|
|
40 |
C |
p.
|
artikel
|
| 6 |
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders
|
Okano, Mai
|
|
|
40 |
C |
p.
|
artikel
|
| 7 |
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review
|
Chen, Yunxi
|
|
|
40 |
C |
p.
|
artikel
|
| 8 |
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation
|
Piao, Yurong
|
|
|
40 |
C |
p.
|
artikel
|
| 9 |
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series
|
Saneifard, Hedyeh
|
|
|
40 |
C |
p.
|
artikel
|
| 10 |
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice
|
Tsukimura, Takahiro
|
|
|
40 |
C |
p.
|
artikel
|
| 11 |
Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency
|
Fiori, Laura
|
|
|
40 |
C |
p.
|
artikel
|
| 12 |
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation
|
Guida, Claudio Carmine
|
|
|
40 |
C |
p.
|
artikel
|
| 13 |
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials
|
Mozaffar, Tahseen
|
|
|
40 |
C |
p.
|
artikel
|
| 14 |
Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data
|
Jain, Mahim
|
|
|
40 |
C |
p.
|
artikel
|
| 15 |
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran
|
Shakiba, Marjan
|
|
|
40 |
C |
p.
|
artikel
|
| 16 |
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
|
Elahi Vahed, Iman
|
|
|
40 |
C |
p.
|
artikel
|
| 17 |
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype
|
Liu, Zhiquan
|
|
|
40 |
C |
p.
|
artikel
|
| 18 |
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report
|
Ibe, Masaki
|
|
|
40 |
C |
p.
|
artikel
|
| 19 |
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil
|
Mendes, Camila
|
|
|
40 |
C |
p.
|
artikel
|
| 20 |
Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy
|
Yano, Shoji
|
|
|
40 |
C |
p.
|
artikel
|
| 21 |
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations
|
Torrice, Lindsay
|
|
|
40 |
C |
p.
|
artikel
|
| 22 |
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
|
Ranganath, L.R.
|
|
|
40 |
C |
p.
|
artikel
|
| 23 |
Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan
|
Arakawa, Makoto
|
|
|
40 |
C |
p.
|
artikel
|
| 24 |
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency
|
Morris, Andrew A.M.
|
|
|
40 |
C |
p.
|
artikel
|
| 25 |
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China
|
Lin, Weihua
|
|
|
40 |
C |
p.
|
artikel
|
| 26 |
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family
|
Li, Hui
|
|
|
40 |
C |
p.
|
artikel
|
| 27 |
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report
|
Gregoric, Nadan
|
|
|
40 |
C |
p.
|
artikel
|
| 28 |
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase
|
Turgeon, Coleman
|
|
|
40 |
C |
p.
|
artikel
|
| 29 |
Survival of propionic acidemia patients with liver transplant
|
Zelei, Tamás
|
|
|
40 |
C |
p.
|
artikel
|
| 30 |
The association between circulating phenylalanine and the temporal risk of impaired insulin markers in gestational diabetes mellitus
|
Wu, Hao
|
|
|
40 |
C |
p.
|
artikel
|
| 31 |
The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening
|
Sacharow, S.
|
|
|
40 |
C |
p.
|
artikel
|
| 32 |
Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China
|
Li, Chenxi
|
|
|
40 |
C |
p.
|
artikel
|
| 33 |
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review
|
Amin Nordin, Fatimah Diana
|
|
|
40 |
C |
p.
|
artikel
|
| 34 |
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
|
Huggins, Erin
|
|
|
40 |
C |
p.
|
artikel
|
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