Y. Lillquist

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Aliases
Yolanda P. Lillquist, Y Lillquist, Yolanda Lillquist, Yolanda P Lillquist, Y. Lillquist, Y. P. Lillquist
Publication record
30 papers · 491 citations · H-index 12

PAPERS

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
2015122 citationsauthor #20
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
20157 citationsauthor #8
Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect
20140 citationsauthor #22
Blood phenylalanine concentrations and dietary phenylalanine tolerance in patients with PKU in response to treatment with sapropterin hydrochloride: A multidimensional approach to determine clinically meaningful outcomes
20140 citationsauthor #8
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
201315 citationsauthor #7
182 The impact of specific organisms and lung function on the frequency of respiratory exacerbations in paediatric CF patients
20120 citationsauthor #4
277 Health status of cystic fibrosis patients in British Columbia (BC): does proximity to clinic matter?
20120 citationsauthor #4
Effects of a Pseudomonas aeruginosa eradication policy in a cystic fibrosis clinic
201212 citationsauthor #3
The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report.
20125 citationsauthor #6
from mild to severe and can involve more than one organ system.
20110 citationsauthor #5
Mitochondrial disease clinical manifestations : An overview
201123 citationsauthor #6
Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described
201111 citationsauthor #3
Infantile cardioencephalopathy due to a COX15 gene defect: Report and review
201144 citationsauthor #2
Economic effects of an eradication protocol for first appearance of Pseudomonas aeruginosa in cystic fibrosis patients: 1995 vs. 2009.
201124 citationsauthor #1
Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
201117 citationsauthor #2
Celiac disease in patients with cystic fibrosis: a common association?
20100 citationsauthor #6
Exophiala dermatitidis: Friend or Foe?
20100 citationsauthor #4
89. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type IH prior to hematopoietic stem cell transplantation
20090 citationsauthor #2
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.
200976 citationsauthor #11
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
200823 citationsauthor #4
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
200849 citationsauthor #4
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’
200810 citationsauthor #5
Newborn Screening for MCAD Deficiency
20086 citationsauthor #4
250* Can physiological parameters determine the optimal method of airway clearance for the individual patient with cystic fibosis?
20073 citationsauthor #3
96 Economic effects of “first growth” therapy for Pseudomonas aeruginosa in Cystic Fibrosis patients — 1995—2005
20060 citationsauthor #2
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
20055 citationsauthor #3
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
200513 citationsauthor #4
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy
200424 citationsauthor #6
Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis.
20031 citationsauthor #9
Mitochondrial Disease Clinical Manifestations: an Overview General Characteristics of Pediatric and Adult- Onset Disease
year unknown0 citationsauthor #6

TIMELINE

2003 1 citations

2004 24 citations

2005 18 citations

2006 0 citations

2007 3 citations

2008 88 citations

2009 76 citations

2010 0 citations

2011 119 citations

2012 17 citations

2013 15 citations

2014 0 citations

2015 129 citations

Unknown 0 citations

Y. Lillquist

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